Advances in Respiratory Medicine

8 pages, 709 KiB

Open AccessArticle

Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky–Pudlak Syndrome

by 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 and Rosa Román-Carlo

Adv. Respir. Med. 2024, 92(6), 444-451; https://doi.org/10.3390/arm92060040 - 24 Oct 2024

Abstract

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 [...] Read more.

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 HPS-1 (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 (n = 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. Full article

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15 pages, 6588 KiB

Open AccessFeature PaperArticle

Expression of Epithelial Alarmin Receptor on Innate Lymphoid Cells Type 2 in Eosinophilic Chronic Obstructive Pulmonary Disease

by Katarzyna Królak-Nowak, Marta Wierzbińska, Aleksandra Żal, Adam Antczak and Damian Tworek

Adv. Respir. Med. 2024, 92(5), 429-443; https://doi.org/10.3390/arm92050039 - 18 Oct 2024

Abstract

Studies have shown that eosinophilic COPD (eCOPD) is a distinct phenotype of the disease. It is well established that innate lymphoid cells are involved in the development of eosinophilic inflammation. Interleukin(IL)-25, thymic stromal lymphopoietin (TSLP) and IL-33 are a group of cytokines produced [...] Read more.

Studies have shown that eosinophilic COPD (eCOPD) is a distinct phenotype of the disease. It is well established that innate lymphoid cells are involved in the development of eosinophilic inflammation. Interleukin(IL)-25, thymic stromal lymphopoietin (TSLP) and IL-33 are a group of cytokines produced by epithelium in response to danger signals, e.g., cigarette smoke, and potent activators of ILC2s. In the present study, we examined circulating and sputum ILC2 numbers and expression of intracellular IL-5 as well as receptors for TSLP, IL-33 and IL-25 by ILC2s in non-atopic COPD patients with and without (neCOPD) airway eosinophilic inflammation and healthy smokers. In addition, we examined the association between ILC2s and clinical indicators of COPD burden (i.e., symptom intensity and risk of exacerbations). ILC2s were enumerated in peripheral blood and induced sputum by means of flow cytometry. We noted significantly greater numbers of airway IL-5⁺ILC2s and TSLPR⁺ILC2s in eCOPD compared with neCOPD (p < 0.05 and p < 0.01, respectively) and HSs (p < 0.001 for both). In addition, we showed that IL-5⁺ILC2s, IL-17RB⁺ILC2s and ST2⁺ILC2s are significantly increased in the sputum of eCOPD patients compared with HSs. In all COPD patients, sputum ILC2s positively correlated with sputum eosinophil percentage (r = 0.48, p = 0.002). We did not find any significant correlations between sputum ILC2s and dyspnea intensity as measured by the modified Medical Research Council scale (mMRC) and symptom intensity measured by the COPD Assessment Test (CAT). These results suggest the involvement of epithelial alarmin-activated ILC2s in the pathobiology of eosinophilic COPD. Full article

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8 pages, 252 KiB

Open AccessReview

Utility of Raman Spectroscopy in Pulmonary Medicine

by Pauls Dzelve, Arta Legzdiņa, Andra Krūmiņa and Madara Tirzīte

Adv. Respir. Med. 2024, 92(5), 421-428; https://doi.org/10.3390/arm92050038 - 18 Oct 2024

Abstract

The Raman effect, or as per its original description, “modified scattering”, is an observation that the number of scattered light waves shifts after photons make nonelastic contact with a molecule. This effect allows Raman spectroscopy to be very useful in various fields. Although [...] Read more.

The Raman effect, or as per its original description, “modified scattering”, is an observation that the number of scattered light waves shifts after photons make nonelastic contact with a molecule. This effect allows Raman spectroscopy to be very useful in various fields. Although it is well known that Raman spectroscopy could be very beneficial in medicine as a diagnostic tool, there are not many applications of Raman spectroscopy in pulmonary medicine. Mostly tumor tissue, sputum and saliva have been used as material for analysis in respiratory medicine. Raman spectroscopy has shown promising results in malignancy recognition and even tumor staging. Saliva is a biological fluid that could be used as a reliable biomarker of the physiological state of the human body, and is easily acquired. Saliva analysis using Raman spectroscopy has the potential to be a relatively inexpensive and quick tool that could be used for diagnostic, screening and phenotyping purposes. Chronic obstructive pulmonary disease (COPD) is a growing cause of disability and death, and its phenotyping using saliva analysis via Raman spectroscopy has a great potential to be a dependable tool to, among other things, help reduce hospitalizations and disease burden. Although existing methods are effective and generally available, Raman spectroscopy has the benefit of being quick and noninvasive, potentially reducing healthcare costs and workload. Full article

26 pages, 4281 KiB

Open AccessArticle

Secure and Transparent Lung and Colon Cancer Classification Using Blockchain and Microsoft Azure

by Entesar Hamed I. Eliwa, Amr Mohamed El Koshiry, Tarek Abd El-Hafeez and Ahmed Omar

Adv. Respir. Med. 2024, 92(5), 395-420; https://doi.org/10.3390/arm92050037 - 17 Oct 2024

Abstract

Background: The global healthcare system faces challenges in diagnosing and managing lung and colon cancers, which are significant health burdens. Traditional diagnostic methods are inefficient and prone to errors, while data privacy and security concerns persist. Objective: This study aims to develop a [...] Read more.

Background: The global healthcare system faces challenges in diagnosing and managing lung and colon cancers, which are significant health burdens. Traditional diagnostic methods are inefficient and prone to errors, while data privacy and security concerns persist. Objective: This study aims to develop a secure and transparent framework for remote consultation and classification of lung and colon cancer, leveraging blockchain technology and Microsoft Azure cloud services. Dataset and Features: The framework utilizes the LC25000 dataset, containing 25,000 histopathological images, for training and evaluating advanced machine learning models. Key features include secure data upload, anonymization, encryption, and controlled access via blockchain and Azure services. Methods: The proposed framework integrates Microsoft Azure’s cloud services with a permissioned blockchain network. Patients upload CT scans through a mobile app, which are then preprocessed, anonymized, and stored securely in Azure Blob Storage. Blockchain smart contracts manage data access, ensuring only authorized specialists can retrieve and analyze the scans. Azure Machine Learning is used to train and deploy state-of-the-art machine learning models for cancer classification. Evaluation Metrics: The framework’s performance is evaluated using metrics such as accuracy, precision, recall, and F1-score, demonstrating the effectiveness of the integrated approach in enhancing diagnostic accuracy and data security. Results: The proposed framework achieves an impressive accuracy of 100% for lung and colon cancer classification using DenseNet, ResNet50, and MobileNet models with different split ratios (70–30, 80–20, 90–10). The F1-score and k-fold cross-validation accuracy (5-fold and 10-fold) also demonstrate exceptional performance, with values exceeding 99.9%. Real-time notifications and secure remote consultations enhance the efficiency and transparency of the diagnostic process, contributing to better patient outcomes and streamlined cancer care management. Full article

(This article belongs to the Special Issue Respiratory Rehabilitation: Current Perspectives and Future Challenges)

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11 pages, 1077 KiB

Open AccessArticle

Comparing the Effects of Two Surfactant Administration Methods: Minimally Invasive Surfactant Therapy (MIST) with Intubation (INSURE) in Infants with Respiratory Distress Syndrome

by Hassan Boskabadi, Maryam Behmadi, Gholamali Maamouri, Tina Loghmani and Abdolrasoul Rangrazi

Adv. Respir. Med. 2024, 92(5), 384-394; https://doi.org/10.3390/arm92050036 - 11 Oct 2024

Abstract

Background: The aim of this study is to investigate and compare the effects of administering a surfactant through a fine intra-tracheal catheter during spontaneous breathing with the usual INSURE method in premature infants. Materials and Methods: In this clinical trial, premature babies with [...] Read more.

Background: The aim of this study is to investigate and compare the effects of administering a surfactant through a fine intra-tracheal catheter during spontaneous breathing with the usual INSURE method in premature infants. Materials and Methods: In this clinical trial, premature babies with respiratory distress syndrome who required surfactant administration were randomly assigned to two groups: an intervention group (MIST) and a control group (INSURE). The treatment results were compared in terms of complications related to treatment (desaturation, apnea, bradycardia, and surfactant reflux), respiratory complications (requirement for mechanical ventilation, duration of nCPAP, duration of oxygen requirement, frequency of pneumothorax, and pulmonary hemorrhage), complications related to prematurity (incidence of IVH, NEC, BPD, and PDA), the need for a second dose of surfactant, and the duration of hospitalization. Results: a total of 160 premature babies with a gestational age of 26–34 weeks were randomly divided into two groups. The results showed that the need for mechanical ventilation, the duration of CPAP needed, and the duration of oxygen therapy were significantly lower in the MIST group than in the INSURE group. Additionally, the incidence of BPD was less common in the MIST group compared to the INSURE group. However, surfactant reflux was more common in the MIST group than in the INSURE group. There were no significant differences between the two groups in other outcomes, including the length of hospital stay and complications such as IVH, PDA, NEC, pneumothorax, and pulmonary hemorrhage. Conclusion: The results of this research demonstrate that the less invasive method of surfactant therapy (MIST) is a feasible, effective, and low-risk alternative to the INSURE method. Full article

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14 pages, 1837 KiB

Open AccessArticle

The Impact of Different Telerehabilitation Methods on Peripheral Muscle Strength and Aerobic Capacity in COPD Patients: A Randomized Controlled Trial

by Amine Ataç, Esra Pehlivan, Fulya Senem Karaahmetoğlu, Zeynep Betül Özcan, Halit Çınarka, Mustafa Çörtük, Kürsad Nuri Baydili and Erdoğan Çetinkaya

Adv. Respir. Med. 2024, 92(5), 370-383; https://doi.org/10.3390/arm92050035 - 20 Sep 2024

Abstract

Lung diseases have profound effects on the aging population. We aimed to hypothesize and investigate the effect of remote pulmonary telerehabilitation and motor imagery (MI) and action observation (AO) methods on the clinical status of elderly chronic obstructive pulmonary disease (COPD) patients. Twenty-six [...] Read more.

Lung diseases have profound effects on the aging population. We aimed to hypothesize and investigate the effect of remote pulmonary telerehabilitation and motor imagery (MI) and action observation (AO) methods on the clinical status of elderly chronic obstructive pulmonary disease (COPD) patients. Twenty-six patients were randomly assigned to pulmonary telerehabilitation (PtR) or cognitive telerehabilitation (CtR) groups. The programs were carried out 3 days a week for 8 weeks. The 6-min walk test (6MWT), modified Medical Research Council dyspnea score, blood lactate level (BLL), measurement of peripheral muscle strength (PMS), and electromyography activation levels of accessory respiratory muscles were the main outcomes. There was a statistically significant improvement (p < 0.05) in both groups in the 6MWT distance and in secondary results, except for BLL. Generally, in the mean muscle activity obtained from the electromyography measurement after the program, there were statistically significant increases in the PtR group and decreases in the CtR group (p < 0.05). There was a statistically significant increase in PMS in both groups. An active muscle-strengthening program has the same benefits as applying the muscle-strengthening program to the patient as MI and AO. CtR can be a powerful alternative rehabilitation method in respiratory patients who cannot tolerate active exercise programs. Full article

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14 pages, 1078 KiB

Open AccessReview

Prevention and Management of Malnutrition in Patients with Chronic Obstructive Pulmonary Disease: A Scoping Review

by Stefano Mancin, Sara Khadhraoui, Erica Starace, Simone Cosmai, Fabio Petrelli, Marco Sguanci, Giovanni Cangelosi and Beatrice Mazzoleni

Adv. Respir. Med. 2024, 92(5), 356-369; https://doi.org/10.3390/arm92050034 - 6 Sep 2024

Abstract

Background: Chronic obstructive pulmonary disease (COPD) is linked to altered nutritional status due to increased catabolism, leading to muscle mass loss. This study aims to identify and map available evidence regarding multidisciplinary interventions focused on prevention, diagnosis and nutrition education, as well as [...] Read more.

Background: Chronic obstructive pulmonary disease (COPD) is linked to altered nutritional status due to increased catabolism, leading to muscle mass loss. This study aims to identify and map available evidence regarding multidisciplinary interventions focused on prevention, diagnosis and nutrition education, as well as the role of diet, to prevent and manage malnutrition in patients with COPD. Methods: A scoping review was conducted using the Cochrane, PubMed/Medline, CINAHL, Embase, Scopus, and Web of Science databases. This study adhered to the Arksey and O’Malley framework and JBI methodology. Results: Of the 1761 records identified, 15 were included. Evidence suggests that the Malnutrition Universal Screening Tool and Mini Nutritional Assessment are the most suitable screening scale. Guidelines have highlighted that personalized nutritional counseling is a very common intervention as it allows for a consideration of all physical, psychological, and social aspects of the patient. Conclusions: The role of healthcare professionals is crucial in the early identification of nutrition-related issues and in educating patients about the prevention and management of malnutrition, both in hospital and community settings. Key aspects include early malnutrition detection, personalized counseling and patient education, and a multidisciplinary approach. These findings provide a foundation for developing of targeted patient educational initiatives to improve the nutritional management of COPD patients. Full article

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8 pages, 239 KiB

Open AccessReview

May Small Airways Dysfunction (SAD) Play a Role in the Idiopathic Pulmonary Fibrosis (IPF) and May SAD Be a Therapeutic Target?

by Dariusz Ziora

Adv. Respir. Med. 2024, 92(5), 348-355; https://doi.org/10.3390/arm92050033 - 6 Sep 2024

Abstract

Small airway dysfunction (SAD) is a pathological process that affects the bronchioles and non-cartilaginous airways below 2 mm in diameter. This short review presents a link between SAD and IPF. Pathomorphological changes of small airways in fibrotic lungs are discussed. Additionally, functional abnormalities [...] Read more.

Small airway dysfunction (SAD) is a pathological process that affects the bronchioles and non-cartilaginous airways below 2 mm in diameter. This short review presents a link between SAD and IPF. Pathomorphological changes of small airways in fibrotic lungs are discussed. Additionally, functional abnormalities related to SAD measured by spirometry and oscillometry are presented. The problem of early detection and treatment of SAD as a procedure potentially capable of mitigating fibrosis is mentioned. Full article

10 pages, 1117 KiB

Open AccessArticle

Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study

by Mohammad Ala’ Alajjuri, Rania Abusamra, Vivek Mundada and Omendra Narayan

Adv. Respir. Med. 2024, 92(5), 338-347; https://doi.org/10.3390/arm92050032 - 28 Aug 2024

Abstract

Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) [...] Read more.

Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) on respiratory function in SMA-1 patients ventilated via tracheostomy pre-gene therapy. A prospective cohort study included 22 patients. Patients were weaned off ventilation for at least 8 h daily by optimizing ventilator settings and duration, using cough augmentation, managing excessive airway secretions, enhancing nutrition, screening for respiratory bacterial colonization, and treating infections. Gene therapy was administered at a median age of 26 (Q1: 18, Q3: 43) months with a mean follow-up period of 7.64 (SD: 6.50) months. Gene therapy was safe and effective in resolving paradoxical breathing, improving cough ability, reducing airway secretions, and enhancing CHOP-INTEND scores. The clinical assessment and management implemented pre-gene therapy were effective in safely weaning patients for at least 8 h off ventilation daily. Gene therapy at a late age was safe and effective over the short-term period; however, long-term follow-up is recommended. In conjunction with gene therapy, high-quality clinical care is beneficial and should be paired with gene therapy. Full article

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9 pages, 469 KiB

Open AccessArticle

Small Airways Dysfunction and Lung Hyperinflation in Long COVID-19 Patients as Potential Mechanisms of Persistent Dyspnoea

by Angelos Vontetsianos, Nikolaos Chynkiamis, Christina Anagnostopoulou, Christiana Lekka, Stavrina Zaneli, Nektarios Anagnostopoulos, Nikoleta Rovina, Christos F. Kampolis, Andriana I. Papaioannou, Georgios Kaltsakas, Ioannis Vogiatzis, Grigorios Stratakos, Petros Bakakos and Nikolaos Koulouris

Adv. Respir. Med. 2024, 92(5), 329-337; https://doi.org/10.3390/arm92050031 - 23 Aug 2024

Abstract

Background: Reticulation, ground glass opacities and post-infection bronchiectasis are present three months following hospitalisation in patients recovering from SARS-CoV-2 infection and are associated with the severity of acute infection. However, scarce data exist on small airways impairment and lung hyperinflation in patients with [...] Read more.

Background: Reticulation, ground glass opacities and post-infection bronchiectasis are present three months following hospitalisation in patients recovering from SARS-CoV-2 infection and are associated with the severity of acute infection. However, scarce data exist on small airways impairment and lung hyperinflation in patients with long COVID-19. Aim: To evaluate small airways function and lung hyperinflation in previously hospitalised patients with long COVID-19 and their association with post-COVID-19 breathlessness. Methods: In total, 33 patients (mean ± SD, 53 ± 11 years) with long COVID-19 were recruited 149 ± 90 days following hospital discharge. Pulmonary function tests were performed and lung hyperinflation was defined as RV/TLC ≥ 40%. Small airways function was evaluated by measuring the closing volume (CV) and closing capacity (CC) using the single-breath nitrogen washout technique (SBN₂W). Results: CC was 115 ± 28% pred. and open capacity (OC) was 90 ± 19. CC was abnormal in 13 patients (39%), CV in 2 patients (6.1%) and OC in 9 patients (27%). Lung hyperinflation was present in 15 patients, whilst the mean mMRC score was 2.2 ± 1.0. Lung hyperinflation was associated with CC (r = 0.772, p = 0.001), OC (r = 0.895, p = 0.001) and mMRC (r = 0.444, p = 0.010). Conclusions: Long COVID-19 patients present with small airways dysfunction and lung hyperinflation, which is associated with persistent dyspnoea, following hospitalisation. Full article

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11 pages, 660 KiB

Open AccessReview

A Survey Study of the 3D Facial Landmark Detection Techniques Used as a Screening Tool for Diagnosis of the Obstructive Sleep Apnea Syndrome

by Rastislav Hornák and František Duchoň

Adv. Respir. Med. 2024, 92(4), 318-328; https://doi.org/10.3390/arm92040030 - 14 Aug 2024

Abstract

Obstructive Sleep Apnea (OSA) is a common disorder affecting both adults and children. It is characterized by repeated episodes of apnea (stopped breathing) and hypopnea (reduced breathing), which result in intermittent hypoxia. We recognize pediatric and adult OSA, and this paper focuses on [...] Read more.

Obstructive Sleep Apnea (OSA) is a common disorder affecting both adults and children. It is characterized by repeated episodes of apnea (stopped breathing) and hypopnea (reduced breathing), which result in intermittent hypoxia. We recognize pediatric and adult OSA, and this paper focuses on pediatric OSA. While adults often suffer from daytime sleepiness, children are more likely to develop behavioral abnormalities. Early diagnosis and treatment are important to prevent negative effects on children’s development. Without the treatment, children may be at increased risk of developing high blood pressure or other heart problems. The gold standard for OSA diagnosis is the polysomnography (sleep study) PSG performed at a sleep center. Not only is it an expensive procedure, but it can also be very stressful, especially for children. Patients have to stay at the sleep center during the night. Therefore, screening tools are very important. Multiple studies have shown that OSA screening tools can be based on facial anatomical landmarks. Anatomical landmarks are landmarks located at specific anatomical locations. For the purpose of the screening tool, a specific list of anatomical locations needs to be identified. We are presenting a survey study of the automatic identification of these landmarks on 3D scans of the patient’s head. We are considering and comparing both knowledge-based and AI-based identification techniques, with a focus on the development of the automatic OSA screening tool. Full article

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18 pages, 1446 KiB

Open AccessReview

Exploring the Relationship between Inhaled Corticosteroid Usage, Asthma Severity, and Sleep-Disordered Breathing: A Systematic Literature Review

by Marco Zaffanello, Giuliana Ferrante, Michele Piazza, Luana Nosetti, Laura Tenero and Giorgio Piacentini

Adv. Respir. Med. 2024, 92(4), 300-317; https://doi.org/10.3390/arm92040029 - 9 Aug 2024

Abstract

(1) Background: Sleep-disordered breathing and asthma are often interrelated. Children and adults with asthma are more susceptible to sleep apnea. Inhaled corticosteroids effectively reduce inflammation and prevent structural changes in the airways. Objective: to explore the existing literature to determine whether inhaled corticosteroids [...] Read more.

(1) Background: Sleep-disordered breathing and asthma are often interrelated. Children and adults with asthma are more susceptible to sleep apnea. Inhaled corticosteroids effectively reduce inflammation and prevent structural changes in the airways. Objective: to explore the existing literature to determine whether inhaled corticosteroids play a role in sleep-disordered breathing in patients with asthma. (2) Methods: We conducted a thorough search of the PubMed, Scopus, and Web of Science databases for English-language articles published up to 12 May 2024. We utilized the ROBINS-E tool to assess the risk of bias. (4) Conclusions: 136 articles were discerned upon conducting the literature search. A total of 13 articles underwent exhaustive full-text scrutiny, resulting in 6 being considered non-relevant. The remaining seven articles, assessed for eligibility, were incorporated into the final analysis. Five studies were identified in adults and two in children. In adult patients, inhaled corticosteroids, especially at high doses, appear to increase the risk of sleep apnea in a dose-dependent manner. Moreover, the properties of inhaled corticosteroids, such as particle size, may impact the risk of developing sleep apnea. In children, the severity of asthma is a key factor affecting the prevalence of sleep apnea, whereas inhaled corticosteroids appear to be a less significant risk factor compared to adults. All of the studies reviewed were classified as having a high risk of bias or some concerns regarding bias. Each study revealed at least one type of bias that raised notable concerns. This research highlights a complex interaction between the use of inhaled corticosteroids, the severity of asthma, and the onset of sleep apnea. Additional research is necessary to investigate these relationships further. Full article

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9 pages, 513 KiB

Open AccessArticle

Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children

by Edita Poluzioroviene, Joanna Chorostowska-Wynimko, Sigita Petraitiene, Arunas Strumila, Adriana Rozy, Aneta Zdral and Arunas Valiulis

Adv. Respir. Med. 2024, 92(4), 291-299; https://doi.org/10.3390/arm92040028 - 5 Aug 2024

Abstract

Severe inherited alpha-1 antitrypsin deficiency (AATD) is an autosomal genetic condition linked to chronic obstructive pulmonary disease (COPD). The significance of heterozygous, milder deficiency variants (PiSZ, PiMZ, PiMS) is less clear. We studied AATD genotypes in 145 children (up to 72 months old) [...] Read more.

Severe inherited alpha-1 antitrypsin deficiency (AATD) is an autosomal genetic condition linked to chronic obstructive pulmonary disease (COPD). The significance of heterozygous, milder deficiency variants (PiSZ, PiMZ, PiMS) is less clear. We studied AATD genotypes in 145 children (up to 72 months old) with assessed wheezing severity using the Pediatric Respiratory Assessment Measure (BCCH PRAM score). A control group of 74 children without airway obstruction was included. AAT concentration and Pi phenotype were determined from dry blood spot samples using nephelometry and real-time PCR; PiS and PiZ alleles were identified by isoelectrofocusing. Among the wheezers, the Pi*S allele incidence was 2.07% (3 cases) and the Pi*Z allele was 6.9% (10 cases). The Pi*Z allele frequency was higher in wheezers compared to controls (44.8% vs. 20.27%) and the general Lithuanian population (44.8% vs. 13.6%) and was similar to adult COPD patients in Lithuania: Pi*S 10.3% vs. 15.8% and Pi*Z 44.8% vs. 46.1%. No association was found between AAT genotypes and wheezing severity. Finding that wheezer children exhibit a frequency of Z* and S* alleles like that found in adults with COPD suggests a potential genetic predisposition that links early wheezing in children to the development of COPD in adulthood. Larger cohort studies are needed to confirm this finding. Full article

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13 pages, 698 KiB

Open AccessArticle

Physically Active Lifestyle Attenuates Impairments on Lung Function and Mechanics in Hypertensive Older Adults

by Maysa Alves Rodrigues Brandao-Rangel, Boris Brill, Edilson de Souza Carvalho, Dobroslav Melamed, Renilson Moraes-Ferreira, Anamei Silva-Reis, Patricia Sardinha Leonardo, Claudio Ricardo Frison, Kátia De Angelis and Rodolfo P. Vieira

Adv. Respir. Med. 2024, 92(4), 278-290; https://doi.org/10.3390/arm92040027 - 22 Jul 2024

Abstract

Aim: Physical activity attenuates hypertension in older adults, but its impact on pulmonary function and mechanics in hypertensive older adults is unknown. The study seeks to understand whether a physically active lifestyle can improve respiratory capacity, the mechanical efficiency of the lungs, and, [...] Read more.

Aim: Physical activity attenuates hypertension in older adults, but its impact on pulmonary function and mechanics in hypertensive older adults is unknown. The study seeks to understand whether a physically active lifestyle can improve respiratory capacity, the mechanical efficiency of the lungs, and, consequently, the quality of life of these individuals, comparing data between groups of active and sedentary hypertensive older adults. Methods: This is a cross-sectional study. We evaluated 731 older adults, stratified into two initial groups: hypertensive older adults (HE; n = 445) and non-hypertensive older adults (NHE; n = 286). For a secondary analysis, we used the International Physical Activity Questionnaire to sub-stratify HE and NHE into four groups: physically inactive hypertensive (PIH; n = 182), active hypertensive (AH; n = 110), physically inactive non-hypertensive (PINH; n = 104), and active non-hypertensive (ANH; n = 65). Lung function was measured by spirometry, and lung mechanics were assessed by impulse oscillometry. Results: Hypertensive older adults presented reduced lung function compared to non-hypertensive older adults, and physical inactivity accentuated this decline. Regarding pulmonary mechanics, hypertensive older adults had higher resistance of the entire respiratory system (R5 Hz), the central airways (R20 Hz), and peripheral airways (R5–20 Hz), which may trigger bronchoconstriction. Conclusions: Hypertension is associated with impaired lung function and mechanics in older adults, and a physically active lifestyle attenuates these dysfunctions. Full article

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15 pages, 996 KiB

Open AccessReview

Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies

by Saba Anwar, Jin-Liang Peng, Kashif Rafiq Zahid, Yu-Ming Zhou, Qurban Ali and Chong-Rong Qiu

Adv. Respir. Med. 2024, 92(4), 263-277; https://doi.org/10.3390/arm92040026 - 20 Jul 2024

Abstract

A common life-threatening hereditary disease, Cystic Fibrosis (CF), affects primarily Caucasian infants. High sweat-salt levels are observed as a result of a single autosomal mutation in chromosome 7 that affects the critical function of the cystic fibrosis transmembrane regulator (CFTR). For establishing tailored [...] Read more.

A common life-threatening hereditary disease, Cystic Fibrosis (CF), affects primarily Caucasian infants. High sweat-salt levels are observed as a result of a single autosomal mutation in chromosome 7 that affects the critical function of the cystic fibrosis transmembrane regulator (CFTR). For establishing tailored treatment strategies, it is important to understand the broad range of CFTR mutations and their impacts on disease pathophysiology. This study thoroughly investigates the six main classes of classification of CFTR mutations based on their functional effects. Each class is distinguished by distinct molecular flaws, such as poor protein synthesis, misfolding, gating defects, conduction defects, and decreased CFTR expression at the apical membrane. Furthermore, this paper focuses on the emerging field of CFTR modulators, which intend to restore CFTR function or mitigate its consequences. These modulators, which are characterized by the mode of action and targeted mutation class, have the potential to provide personalized therapy regimens in CF patients. This review provides valuable insights into the genetic basis of CF pathology, and highlights the potential for precision medicine methods in CF therapy by thoroughly investigating CFTR mutation classification and related modulators. Full article

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9 pages, 558 KiB

Open AccessArticle

Validation of Polish-Language Questionnaires for Assessing the Quality of Life of Patients with Primary Ciliary Dyskinesia (PCD-QOL)

by Magdalena Anita Roszak, Anna Bręborowicz, Aleksandra Szczepankiewicz, Marcin Mikoś, Zuzanna Bukowy-Bieryłło, Barbara Więckowska, Laura Behan, Hanna Dmeńska, Joanna Goździk-Spychalska, Agata Nowicka, Ewa Sapiejka, Paulina Famulska, Elżbieta Gąsecka, Andrzej Pogorzelski and Irena Wojsyk-Banaszak

Adv. Respir. Med. 2024, 92(4), 254-262; https://doi.org/10.3390/arm92040025 - 24 Jun 2024

Abstract

In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13–17 years, and children aged 6–12 years and their caregivers. This study aimed to prepare Polish versions of [...] Read more.

In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13–17 years, and children aged 6–12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English. Patients completed the questionnaires according to their affiliation with one of the groups. Validation was based on internal consistency analysis (Cronbach’s alpha coefficient and split-half reliability) and test–retest reliability (intraclass correlation coefficient—ICC). The internal consistency of all questionnaires was from moderate to very good (Cronbach’s alpha 0.67–0.91, split-half reliability 0.53–0.95). The consistency of the measurements showed excellent repeatability (ICC 0.67–0.91). The surveyed Polish PCD patients rated their quality of life quite well (63–77%). QOL questionnaires for patients with PCD can be used routinely during each medical check-up as a simple tool to provide the doctor with an indication of the effectiveness of treatment and the impact of the disease on the patient’s quality of life. Full article

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13 pages, 2856 KiB

Open AccessSystematic Review

Lung Ultrasonography Accuracy for Diagnosis of Adult Pneumonia: Systematic Review and Meta-Analysis

by Dev Desai, Abhijay B. Shah, Joseph Rem C. Dela, Tayba A. Mugibel, Khalid M. Sumaily, Essa M. Sabi, Ahmed H. Mujamammi, Maria E. Malafi, Sara A. Alkaff, Thurya A. Alwahbi, Jamal O. Bahabara and Lotfi S. Bin Dahman

Adv. Respir. Med. 2024, 92(3), 241-253; https://doi.org/10.3390/arm92030024 - 4 Jun 2024

Abstract

Background: Pneumonia is a ubiquitous health condition with severe outcomes. The advancement of ultrasonography techniques allows its application in evaluating pulmonary diseases, providing safer and accessible bedside therapeutic decisions compared to chest X-ray and chest computed tomography (CT) scan. Because of its aforementioned [...] Read more.

Background: Pneumonia is a ubiquitous health condition with severe outcomes. The advancement of ultrasonography techniques allows its application in evaluating pulmonary diseases, providing safer and accessible bedside therapeutic decisions compared to chest X-ray and chest computed tomography (CT) scan. Because of its aforementioned benefits, we aimed to confirm the diagnostic accuracy of lung ultrasound (LUS) for pneumonia in adults. Methods: A systematic literature search was performed of Medline, Cochrane and Crossref, independently by two authors. The selection of studies proceeded based on specific inclusion and exclusion criteria without restrictions to particular study designs, language or publication dates and was followed by data extraction. The gold standard reference in the included studies was chest X-ray/CT scan or both. Results: Twenty-nine (29) studies containing 6702 participants were included in our meta-analysis. Pooled sensitivity, specificity and PPV were 92% (95% CI: 91–93%), 94% (95% CI: 94 to 95%) and 93% (95% CI: 89 to 96%), respectively. Pooled positive and negative likelihood ratios were 16 (95% CI: 14 to 19) and 0.08 (95% CI: 0.07 to 0.09). The area under the ROC curve of LUS was 0. 9712. Conclusions: LUS has high diagnostic accuracy in adult pneumonia. Its contribution could form an optimistic clue in future updates considering this condition. Full article

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11 pages, 1359 KiB

Open AccessArticle

Extracellular Water Ratio and Phase Angle as Predictors of Exacerbation in Chronic Obstructive Pulmonary Disease

by An-Ni Xie, Wen-Jian Huang and Chih-Yuan Ko

Adv. Respir. Med. 2024, 92(3), 230-240; https://doi.org/10.3390/arm92030023 - 31 May 2024

Abstract

Background: Chronic obstructive pulmonary disease (COPD), characterized by high-energy metabolism, often leads to malnutrition and is linked to exacerbations. This study investigates the association of malnutrition-related body composition and handgrip strength changes with exacerbation frequencies in COPD patients. Methods: We analyzed 77 acute [...] Read more.

Background: Chronic obstructive pulmonary disease (COPD), characterized by high-energy metabolism, often leads to malnutrition and is linked to exacerbations. This study investigates the association of malnutrition-related body composition and handgrip strength changes with exacerbation frequencies in COPD patients. Methods: We analyzed 77 acute exacerbation COPD (AECOPD) patients and 82 stable COPD patients, categorized as frequent and infrequent exacerbators. Assessments included body composition, handgrip strength, nutritional risk, dyspnea scale, and COPD assessment. Results: Among AECOPD patients, there were 22 infrequent and 55 frequent exacerbators. Infrequent exacerbators showed better muscle parameters, extracellular water ratio, phase angle, and handgrip strength. Significant differences in intracellular water, total cellular water, protein, and body cell mass were observed between groups. Logistic regression indicated that extracellular water ratio (OR = 1.086) and phase angle (OR = 0.396) were independently associated with exacerbation risk. Thresholds for exacerbation risk were identified as 0.393 for extracellular water ratio and 4.85° for phase angle. In stable COPD, 13 frequent and 69 infrequent exacerbators were compared, showing no significant differences in weight, muscle, and adipose parameters, but significant differences in extracellular water ratio, phase angle, and handgrip strength. Conclusions: These findings suggest that increased exacerbations in COPD patients correlate with higher extracellular water ratios and lower phase angles. Full article

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12 pages, 2248 KiB

Open AccessArticle

Cross-Reactivity of Ragweed Pollen Calcium-Binding Proteins and IgE Sensitization in a Ragweed-Allergic Population from Western Romania

by Lauriana-Eunice Zbîrcea, Maria-Roxana Buzan, Manuela Grijincu, Tudor-Paul Tamaș, Constantina Bianca Vulpe, Ioan Huțu, Virgil Păunescu, Carmen Panaitescu and Kuan-Wei Chen

Adv. Respir. Med. 2024, 92(3), 218-229; https://doi.org/10.3390/arm92030022 - 30 May 2024

Abstract

Ragweed pollen allergy is the most common seasonal allergy in western Romania. Prolonged exposure to ragweed pollen may induce sensitization to pan-allergens such as calcium-binding proteins (polcalcins) and progression to more severe symptoms. We aimed to detect IgE sensitization to recombinant Amb a [...] Read more.

Ragweed pollen allergy is the most common seasonal allergy in western Romania. Prolonged exposure to ragweed pollen may induce sensitization to pan-allergens such as calcium-binding proteins (polcalcins) and progression to more severe symptoms. We aimed to detect IgE sensitization to recombinant Amb a 9 and Amb a 10 in a Romanian population, to assess their potential clinical relevance and cross-reactivity, as well as to investigate the relation with clinical symptoms. rAmb a 9 and rAmb a 10 produced in Escherichia coli were used to detect specific IgE in sera from 87 clinically characterized ragweed-allergic patients in ELISA, for basophil activation experiments and rabbit immunization. Rabbit rAmb a 9- and rAmb a 10-specific sera were used to detect possible cross-reactivity with rArt v 5 and reactivity towards ragweed and mugwort pollen extracts. The results showed an IgE reactivity of 25% to rAmb a 9 and 35% to rAmb a 10. rAmb a 10 induced basophil degranulation in three out of four patients tested. Moreover, polcalcin-negative patients reported significantly more skin symptoms, whereas polcalcin-positive patients tended to report more respiratory symptoms. Furthermore, both rabbit antisera showed low reactivity towards extracts and showed high reactivity to rArt v 5, suggesting strong cross-reactivity. Our study indicated that recombinant ragweed polcalcins might be considered for molecular diagnosis. Full article

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