Search Results (114)

Airway involvement in eosinophilic disorders other than asthma is not well-defined, and the symptoms may be overshadowed by other more prominent eosinophilic extra-respiratory manifestations. This study aimed to evaluate the utility of fractional exhaled nitric oxide (FeNO) in diagnosing eosinophilic airway involvement in patients with persistent eosinophilia (>0.5 × 10⁹/L). We conducted a retrospective analysis of adult patients with confirmed peripheral blood eosinophilia (>0.5 × 10⁹/L) on at least two occasions one month apart. Patients with blood eosinophilia associated with known eosinophilic airway inflammatory diseases were excluded from the study. Pulmonary function testing, spirometry, and FeNO measurement were conducted. A total of 14 patients with various eosinophil-related disorders were identified, with a mean age of 65.7 years. Increased FeNO levels were associated with airflow obstruction and clinical symptoms such as coughing and wheezing. Notably, eosinophil levels were not predictive of eosinophilic airway involvement. FeNO could be a useful diagnostic tool for detecting bronchial eosinophilic airway inflammation in non-asthmatic disorders, thereby enabling appropriate treatment. Further studies with larger cohorts are needed to validate these findings. Full article

Introduction: Asthma is a chronic airway inflammatory disease characterized by variable airflow limitation and intermittent symptoms. In well-controlled asthma, auscultation and spirometry often appear normal, making diagnosis challenging. Moreover, bronchial provocation tests carry a risk of inducing acute bronchoconstriction. This study aimed to develop a non-invasive, objective, and reproducible diagnostic method using machine learning-based lung sound analysis for the early detection of asthma, even during stable periods. Methods: We designed a machine learning algorithm to classify controlled asthma patients and healthy individuals using respiratory sounds recorded with a digital stethoscope. We enrolled 120 participants (60 asthmatic, 60 healthy). Controlled asthma was defined according to Global Initiative for Asthma (GINA) criteria and was supported by normal spirometry, no pathological auscultation findings, and no exacerbations in the past three months. A total of 3600 respiratory sound segments (each 3 s long) were obtained by dividing 90 s recordings from 120 participants (60 asthmatic, 60 healthy) into non-overlapping clips. The samples were analyzed using Mel-Frequency Cepstral Coefficients (MFCCs) and Tunable Q-Factor Wavelet Transform (TQWT). Significant features selected with ReliefF were used to train Quadratic Support Vector Machine (SVM) and Narrow Neural Network (NNN) models. Results: In 120 participants, pulmonary function test (PFT) results in the asthma group showed lower FEV1 (86.9 ± 5.7%) and FEV1/FVC ratios (86.1 ± 8.8%) compared to controls, but remained within normal ranges. Quadratic SVM achieved 99.86% accuracy, correctly classifying 99.44% of controls and 99.89% of asthma cases. Narrow Neural Network achieved 99.63% accuracy. Sensitivity, specificity, and F1-scores exceeded 99%. Conclusion: This machine learning-based algorithm provides accurate asthma diagnosis, even in patients with normal spirometry and clinical findings, offering a non-invasive and efficient diagnostic tool. Full article

Pulmonary carcinoids (PCs) are rare tumors, with an incidence ranging from 0.2 to 2 cases per 100,000 population per year. They account for 1–2% of all invasive pulmonary malignancies and represent approximately one-fourth to one-third of all well-differentiated neuroendocrine tumors (NETs) in the body. PCs are generally classified as low- to intermediate-grade malignant tumors, further subdivided into typical carcinoid (TC) and atypical carcinoid (AC), respectively. These tumors exhibit neuroendocrine morphology and differentiation, originating from mature cells of the pulmonary diffuse neuroendocrine system. Traditionally, they are categorized as central or peripheral based on their location relative to the bronchial tree; however, they can arise anywhere within the lung parenchyma. Over 40% of cases may be detected incidentally on a standard chest X-ray, although contrast-enhanced computed tomography (CT) remains the diagnostic gold standard. Surgical resection is the treatment of choice for PCs, with the goal of complete tumor removal while preserving as much healthy lung tissue as possible. In contrast, advanced cases are typically not amenable to surgery, and medical management is focused on controlling hormone-related symptoms and limiting tumor progression. This review aims to provide an overview of the current diagnostic and therapeutic approaches to pulmonary carcinoids. Full article

Recent documents from leading international pediatric respiratory societies have strongly encouraged the use of lung function tests in clinical practice and research. These tests can explore ventilatory function across its volumetric and temporal domains, providing information on the intrapulmonary location and extent of damage caused by respiratory diseases. The choice of which test to use in each case to investigate presenting respiratory symptoms depends on the patient’s symptoms and the diagnostic–therapeutic phase being addresse d. In the most common and representative chronic pediatric condition—bronchial asthma—lung function tests play an especially important role due to the disease’s complexity and the fluctuating nature of airway obstruction. This review aims to examine the potential of various lung function tests in asthma, helping clinicians and researchers to optimize diagnosis and follow-up with the most appropriate methodology. While spirometry and flow resistance measurements using the interrupter technique have historically been the cornerstones of diagnosis and clinical monitoring in childhood asthma, the advent of new technologies—such as multiple breath nitrogen washout (MBNW) and the forced oscillation technique (FOT)—is opening up the door to a more nuanced view of the disease. These tools allow for an evaluation of asthma as a structurally complex and topographically and temporally disorganized condition. FOT, in particular, facilitates measurement acceptability in less cooperative subjects, both in respiratory physiology labs and even at the patient’s home. Full article

Lymphangioleiomyomatosis (LAM) is a rare progressive disease that affects women of reproductive age and is characterized by cystic lung destruction, airflow obstruction, and lymphatic dysfunction. Current diagnostic methods are costly or lack sufficient specificity, highlighting the need for novel non-invasive approaches. Exhaled breath analysis using real-time proton mass spectrometry (PTR-MS) presents a promising strategy for identifying disease-specific volatile organic compounds (VOCs). This cross-sectional study analyzed exhaled breath samples from 51 LAM patients and 51 age- and sex-matched healthy controls. PTR-time-of-flight mass spectrometry (PTR-TOF-MS) was employed to identify VOC signatures associated with LAM. Data preprocessing, feature selection, and statistical analyses were performed using machine learning models, including gradient boosting classifiers (XGBoost), to identify predictive biomarkers of LAM and its complications. We identified several VOCs as potential biomarkers of LAM, including m/z = 90.06 (lactic acid) and m/z = 113.13. VOCs predictive of disease complications included m/z = 49.00 (methanethiol), m/z = 48.04 (O-methylhydroxylamine), and m/z = 129.07, which correlated with pneumothorax, obstructive ventilation disorders, and radiological findings of lung cysts and bronchial narrowing. The classifier incorporating these biomarkers demonstrated high diagnostic accuracy (AUC = 0.922). This study provides the first evidence that exhaled breath VOC profiling can serve as a non-invasive additional tool for diagnosing LAM and predicting its complications. These findings warrant further validation in larger cohorts to refine biomarker specificity and explore their clinical applications in disease monitoring and personalized treatment strategies. Full article

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition classically associated with pulmonary emphysema and liver disease. However, the potential link between AATD and other respiratory diseases, particularly bronchial asthma, remains poorly understood and highly debated. This narrative review explores the current evidence regarding the epidemiological, clinical, and pathophysiological relationship between AATD and asthma. Data from prevalence studies show marked variability in the frequency of AATD-associated alleles among asthma patients, ranging from 2.9% to 25.4%, suggesting either a true association or selection biases. Conversely, asthma prevalence among AATD patients also varies widely, from 1.4% to 44.6%, with higher frequencies observed in countries with long-standing national registries. However, methodological inconsistencies and a lack of standardized diagnostic criteria limit the interpretation of these findings. Current evidence is insufficient to support a direct causal role for AATD mutations in asthma development, and no clear impact of AATD on asthma severity or prognosis has been established. Furthermore, there is no conclusive evidence that augmentation therapy is beneficial in asthma patients carrying AATD mutations. Despite these uncertainties, screening for AATD in selected asthma populations—especially those with severe or atypical phenotypes—may be warranted, as recommended by major respiratory societies. Future research should focus on large, well-powered, prospective studies that evaluate the potential pathophysiological interactions between AATD and specific asthma endotypes, particularly T2-low asthma. These efforts may help clarify the relevance of AATD mutations in asthma pathogenesis and identify potential therapeutic targets. Full article

Background/Objectives: Peripheral pulmonary lesions (PPLs) are the current challenge in bronchoscopy. Novel endoscopic approaches allow us to reach PPLs better than a few years ago. In patients with resectable non-small cell lung cancer (NSCLC), perioperative chemotherapy is associated with significantly greater event-free survival; this means that histological assessment before the resectable surgery of PPLs is becoming mandatory. Our objective was to evaluate the diagnostic yield (DY) of a thin bronchoscope (TB) for PPLs suspected for lung cancer that are not reachable with conventional bronchoscopy. Methods: A total of 176 patients with PPLs were evaluated from January 2022 to July 2023. Of the patients, 26 presented with not reachable PPLs with conventional bronchoscopy, and underwent the procedure again with a TB. When possible, R-EBUS was used. PPLs’ dimensions were recorded via chest computed tomography (CT) scan. DY was evaluated. Results: Mean lesion size was 29 mm, and overall DY for TB was 65% (17/26). When the lesion was bigger than 20 mm, DY was 76.5% (13/17), whereas in lesions smaller than 20 mm, DY was 55% (5/9). When PPLs presented a bronchus sign in the CT scan, diagnostic performance of TB was significantly better (76.5% vs. 40%, p = 0.04) compared to PPLs without a bronchus sign, independent from PPL dimensions. R-EBUS did not change DY. Conclusions: TB easily allows us to reach and sample PPLs with a high DY if a bronchus sign is positive, independently from PPL dimensions. Further studies are needed to evaluate if more flexible and penetrating bronchial wall biopsy tools can augment DY for PPLs with TB. Full article

Ataxia-telangiectasia is a rare autosomal recessive disorder that is difficult to diagnose due to its unpredictable presentation. It is characterized by cerebellar degeneration, telangiectasias, immunodeficiency, frequent pulmonary infections, and tumors. Immune system abnormalities manifest as disruptions in both cellular and humoral immunity. The most common findings include decreased levels of immunoglobulin classes (IgA, IgM, IgG, and IgG subclasses) and a reduced number of T and B lymphocytes. A four-year-old girl was initially evaluated and treated for skin lesions that presented as crusts spreading across her body. She was monitored by a pulmonologist due to frequent bronchial obstructions. Over time, she developed bilateral scleral telangiectasia, saccadic eye movements, and impaired convergence. Her gait was wide-based and unstable, with truncal ataxia and a positive Romberg sign. Laboratory tests revealed decreased immunoglobulin G levels, subclass IgG4 levels, elevated alpha-fetoprotein, and a reduced number of T and B lymphocytes. Brain magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing identified heterozygous variants c.1564-165del, p.(Glu5221lefsTer43), and c.7630-2A>C in the serine/threonine-protein kinase ATM (ataxia-telangiectasia mutated) gene, confirming the diagnosis of ataxia-telangiectasia. Following diagnosis, treatment with intravenous immunoglobulin replacement was initiated along with infection prevention and management. The goal of this case report is to raise awareness of the atypical initial presentation that may lead to a diagnostic delay. We emphasize the importance of considering ataxia-telangiectasia in the differential diagnosis, even when classical neurological signs are not yet evident. Full article

Background/Objectives: This systematic review describes a largely descriptive synthesis of studies investigating the diagnostic performance of quantitative contrast-enhanced ultrasound (CEUS) in differentiating benign from malignant peripheral pulmonary lesions. Methods: Formal quantitative pooling of effect sizes was not feasible due to variability in outcome measurements and reporting. Results: Combining CEUS parameters with real-time on-site evaluation (ROSE) substantially improved percutaneous biopsy success rates. In one comparative study, biopsy yield reached 97.62% with CEUS, versus 84% using conventional ultrasound, while complications remained minimal. Other investigations focused on the discriminatory value of specific time-based indices (e.g., AT ≥ 10 s, lesion-lung AT difference ≥ 2.5 s) or complex multi-parameter models. A notable large study demonstrated that a six-parameter logistic regression model achieved near-excellent discrimination, with C-statistics exceeding 0.97 for both development and validation cohorts, outperforming single-threshold approaches. Nevertheless, certain findings emphasize that no single indicator—particularly arrival time alone—reliably distinguishes benign from malignant lesions, given the diverse vascular patterns and histological subtypes involved. TDOA-based analyses proved more promising, as malignant lesions generally exhibit a delayed but robust bronchial arterial supply and rapid washout. Heterogeneity in ultrasound systems, operator experience, and patient populations further underscores the need for standardized protocols. Conclusions: Overall, these data suggest that CEUS, particularly when combined with additional sonographic or cytological tools, significantly enhances diagnostic precision for peripheral pulmonary lesions. Full article

Bronchiectasis (BE) and bronchomalacia (BM) are chronic respiratory diseases in dogs, yet their combined occurrence (BEBM) is not well studied. This retrospective study analyzed 65 dogs diagnosed via endoscopy with BE, BM, or BEBM (E-BE, E-BM, E-BEBM) to identify clinical and pathological differences and assess how imaging results (radiography and computed tomography (CT)) align with endoscopic findings. Clinical symptoms like coughing, dyspnea, and exercise intolerance were similar across all groups, except lung crackles, which were more common in E-BEBM. Inflammation seen during bronchoscopy and bronchoalveolar lavage fluid results, including neutrophil counts, showed no significant differences between groups. Bacterial infections were present in 15% of dogs with no difference among groups. Diagnostic agreement between radiography and endoscopy was low: 18.1% for E-BE, 10.5% for E-BM, and 38.4% for E-BEBM. CT results matched endoscopic findings in all E-BE cases but only in half of E-BM and 40% of E-BEBM cases. The bronchial-to-arterial ratio, a benchmark for BE diagnosis, did not align with CT findings. Overall, the study found limited clinical or pathological differences between BE, BM, and BEBM and limited concordance between imaging and endoscopic findings, emphasizing the need for further research to clarify potential implications for treatment strategies. Full article

Background and Clinical Significance: This article explores the complexity of large-cell neuroendocrine carcinoma (LCNEC) by presenting a clinical case involving a 17-year-old admitted for persistent wheezing, with no history of respiratory toxin exposure, a background of atopy, and a suspected diagnosis of bronchial asthma. Given the patient’s age and the nature of the symptoms, the condition was initially diagnosed as asthma, leading to the initiation of maximum inhalation therapy. Case Presentation: Despite proper adherence and correct administration, symptoms persisted, necessitating the use of oral corticosteroids. Imaging revealed an extensive inhomogeneous mass in the cervical esophagus and trachea, along with a similar tumor in the right hilum, prompting bronchoscopy. The diagnosis of LCNEC was confirmed through imaging, histopathological findings, and a detailed immunohistochemical profile. Initially misdiagnosed as adenoid cystic carcinoma, this case highlights the diagnostic challenges and the importance of rigorous evaluation. Conclusions: It emphasizes that recurrent wheezing in adolescents is not always indicative of asthma and requires careful differential diagnosis to uncover less common causes. Full article

Background/Objectives: Radiological imaging is crucial in intensive care settings, particularly for the differential diagnosis of fever and sepsis. Computed tomography (CT) is the preferred method for detecting infectious foci in critically ill ICU patients. Methods: This study prospectively analyzed non-ECG-gated chest and abdominal CT scans from ICU patients to assess CT’s diagnostic utility. Data from prior imaging modalities (CT, radiography, MRI, ultrasound), microbiological assays (blood cultures, bronchoalveolar lavage, urinalysis), and enzymatic profiles (transaminases, pancreatic enzymes) were included. The predictive value of clinical and laboratory parameters was evaluated via correlation analysis. Results: A total of 112 patients were evaluated, with 99 exhibiting 147 inflammatory foci (92 thoracic, 55 abdominal). Definitive diagnoses were made in 58.5% of cases, while 41.5% remained classified as possible. Prior diagnostic procedures identified inflammatory origins in 57.1% of cases. Fewer CT-detected foci were observed in patients with bronchial asthma or type 2 diabetes mellitus (p = 0.049 and p = 0.006). Conclusions: CT imaging plays a central role in identifying infectious foci in ICU patients with unexplained syndromes, particularly in the thoracic region. CT scanning is recommended for sepsis management when other diagnostic evidence is lacking. Conditions such as bronchial asthma or diabetes mellitus may prompt earlier suspicion of infectious foci due to elevated inflammatory markers. Full article

Anatomy is critical for understanding the physiological and biological adaptations of living creatures. In the case of Pseudopus apodus, an anguimorph lizard belonging to the Order Squamata, it is particularly important considering the scarce previous works on the morphology of its coelomic cavity. It is interesting to consider that, over the years, using non-invasive approaches in reptiles, such as diagnostic imaging methods, is becoming popular for both scientific and clinical purposes. For the present work, we used a total of five Pseudopus apodus individuals (two males and three females); one male and one female were whole-body examined by multi-detector computed tomography (CT) and then all were dissected following a conventional anatomical protocol. The novelty and the main contribution of our multi-detector CT study is to identify structures that had never been identified before using this technique, such as the opening of the vomeronasal organ and the choanae, the tongue, the glottis, the hyoid bone, the esophagus, the stomach, the small and large intestines, the cloaca, the liver, the gallbladder, the kidneys, the ovarian follicles, the trachea, the bronchial bifurcation, the lungs, the heart, the aortic arches, the aorta, the sinus venosus, and the cranial cava veins. On the contrary, other organs like the thyroid, the pancreas, the spleen, the ureters, the urinary bladder, the oviducts, the testes, the hemipenes, the pulmonary trunk, and the pulmonary arteries were only identified in the anatomical dissection. Thus, our results demonstrate that multi-detector CT scanning is a useful tool to identify a significant number of anatomical structures in Pseudopus apodus, which is important for clinical veterinary practice related to this species or different conservation programs, among other applications. Full article

Background/Objectives: The methacholine bronchial provocation test (MBPT) is a diagnostic test frequently used to evaluate airway hyper-reactivity. MBPT is essential for diagnosing asthma; however, it can be time-consuming and resource-intensive. This study aimed to develop an artificial intelligence (AI) model to predict the MBPT results using forced expiratory volume in one second (FEV₁) and bronchodilator test measurements from spirometry. Methods: a dataset of spirometry measurements, including Pre- and Post-bronchodilator FEV₁, was used to train and validate the model. Results: Among the evaluated models, the multilayer perceptron (MLP) achieved the highest area under the curve (AUC) of 0.701 (95% CI: 0.676–0.725), accuracy of 0.758, and an F1-score of 0.853. Logistic regression (LR) and a support vector machine (SVM) demonstrated comparable performance with AUC values of 0.688, while random forest (RF) and extreme gradient boost (XGBoost) achieved slightly lower AUC values of 0.669 and 0.672, respectively. Feature importance analysis of the MLP model identified key contributing features, including Pre-FEF_25–75 (%), Pre-FVC (L), Post FEV₁/FVC, Change-FEV₁ (L), and Change-FEF_25–75 (%), providing insight into the interpretability and clinical applicability of the model. Conclusions: These results highlight the potential of the model to utilize readily available spirometry data, particularly FEV₁ and bronchodilator responses, to accurately predict MBPT results. Our findings suggest that AI-based prediction can improve asthma diagnostic workflows by minimizing the reliance on MBPT and enabling faster and more accessible assessments. Full article

Nasal cytology is a non-invasive, affordable, and easily executable technique commonly used in research to study rhinitis and, to a lesser extent, chronic rhinosinusitis. It is particularly useful for the differential diagnosis of non-allergic rhinitis and for phenotyping chronic rhinosinusitis. Allergic rhinitis, asthma, and aspirin intolerance are frequent comorbidities of chronic rhinosinusitis. A diagnostic system has been proposed to assess the severity of chronic rhinosinusitis (clinical-cytological grading), incorporating nasal cytology and comorbidity observation. This score correlates with the recurrence risk of chronic rhinosinusitis with nasal polyposis. Specifically, a higher grade is often linked to asthma, aspirin intolerance, a recurrent disease requiring surgery, and a mixed cell phenotype (eosinophilic and mast cell). Although nasal cytology has been shown to be able to replace bronchial analysis with acceptable precision due to its technical characteristics, its use in diseases affecting both upper and lower airways remains limited. The main limitation of this technique is its lack of standardization, which currently hinders its widespread clinical adoption despite its increasing familiarity among allergists and otolaryngologists. In the context of the unitary airways hypothesis, nasal cytology could also provide valuable insights for managing lower airway diseases like chronic obstructive pulmonary disease and obstructive sleep apnea syndrome, which significantly impact quality of life and healthcare costs. This review aims to provide an overview of nasal cytology, highlighting its limitations and potential applications in chronic respiratory diseases. Full article