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Adv. Respir. Med., Volume 92, Issue 4 (August 2024) – 6 articles

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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

Cited by 2 | Viewed by 1951

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 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

Cited by 2 | Viewed by 2030

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 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

Viewed by 1409

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) 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

Cited by 1 | Viewed by 2161

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, 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

Cited by 3 | Viewed by 3743

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 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

Viewed by 1686

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 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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