BACKGROUND: There have been few descriptions in the literature on long-term enzyme replacement therapy (ERT) in patients with advanced late-onset Pompe disease (LOPD).
OBJECTIVE: This study aimed to assess the efficacy and limitations of ERT in advanced LOPD patients.
METHODS: We retrospectively reviewed the clinical courses of patients with advanced LOPD (two juvenile-onset and five adult-onset patients) who were treated with recombinant human alglucosidase alfa to examine improvements achieved with and limitations of ERT until their death or when switching to avalglucosidase alfa occurred.
RESULTS: All patients were non-ambulant and ventilator dependent. The duration of follow-up ranged from 3.7 to 15.0 years (median 9.0 years). All patients reported improvements in their lives during the first two or three years of ERT. Vital capacity was clearly improved in patients with relatively spared respiratory function, although it deteriorated after respiratory complications such as pneumothorax. Pinch and grip power tended to be preserved during the treatment period. Muscle CT revealed progression of atrophy and fatty replacement predominantly in the proximal limb muscles without improvement after ERT. Four patients died due to aspergillosis, respiratory failure, ileus, and sudden death of unknown cause.
CONCLUSIONS: Our findings demonstrate that patients undergoing ERT show certain improvements, even in the advanced stage of Pompe disease. Respiratory complications are lethal even during ERT, and early diagnosis and induction of therapy are critical. Muscle wasting progressed more severely in the proximal limbs, even after ERT.

BACKGROUND: In recent years, the incorporation of LAMAs into asthma therapy has been expected to enhance symptom control. However, a significant number of patients with asthma continue to experience poorly managed symptoms. There have been limited investigations on LAMA-induced airway alterations in asthma treatment employing IOS. In this study, we administered a LAMA to patients with poorly controlled asthma, evaluated clinical responses and respiratory function, and investigated airway changes facilitated by LAMA treatments using the IOS.
METHODS: Of a total of 1282 consecutive patients with asthma, 118 exhibited uncontrolled symptoms. Among them, 42 switched their treatment to high-dose fluticasone furoate/umeclidinium/vilanterol (FF/UMEC/VI) (ICS/LABA/LAMA). The patients were then assessed using AHQ-33 or LCQ and ACT. Spirometry parameters (such as FEV1 or MMEF) and IOS parameters (such as R20 or AX) were measured and compared before and after exacerbations and the addition of LAMA.
RESULTS: Of the 42 patients, 17 who switched to FF/UMEC/VI caused by dyspnea exhibited decreased pulmonary function between period 1 and baseline, followed by an increase in pulmonary function between baseline and period 2. Significant differences were observed in IOS parameters such as R20, R5-R20, Fres, or AX between period 1 and baseline as well as between baseline and period 2. Among the patients who switched to inhaler due to cough, 25 were classified as responders (n = 17) and nonresponders (n = 8) based on treatment outcomes. Among nonresponders, there were no significant differences in spirometry parameters such as FEV1 or PEF and IOS parameters such as R20 or AX between period 1 and baseline. However, among responders, significant differences were observed in all IOS parameters, though not in most spirometry parameters, between period 1 and baseline. Furthermore, significant differences were noted between baseline and period 2 in terms of FEV1, %MMEF, %PEF, and all IOS parameters.
CONCLUSIONS: ICS/LABA/LAMA demonstrates superiority over ICS/LABA in improving symptoms and lung function, which is primarily attributed to the addition of LAMA. Additionally, IOS revealed the effectiveness of LAMA across all airway segments, particularly in the periphery. Hence, LAMA can be effective against various asthma phenotypes characterized by airway inflammation, even in real-world cases.

BACKGROUND: Climate change poses a significant threat to respiratory health, exacerbating conditions like asthma, Chronic Obstructive Pulmonary Disease (COPD), and respiratory infections increasing morbidity and mortality indirectly through exposure to greenhouse gases. During the 27th Climate Change Conference (COP27), the Healthy Lung Initiative (HLI) for the early detection of COPD among smokers was launched in Egypt.
OBJECTIVE: We aimed to detect the prevalence and predictors of confirmed COPD among smokers and assess physicians\' adherence to prescribing pulmonary function tests (PFTs) among the COP27 conference attendees.
METHODS: This study utilized smokers\' data from the HLI, employing a cross-sectional design with an interview-based questionnaire, supplemented by spirometry for lung function evaluation. Participants, comprising Egyptian and non-Egyptian residents in Sharm El-Sheikh city, were provided with educational materials and encouraged to seek further evaluation from a pulmonologist.
RESULTS: The HLI study, conducted from November 6th to 20th, 2022, involved 1133 participants, 90% (1047) of whom were smokers. Most smokers were males (96.3%) and Egyptians (98.6%), with half aged 30-39 and the majority starting smoking within the last 20 years. Despite common respiratory symptoms, 47% suffered from dyspnea on exertion, and only 4.3% have undergone lung function tests, suggesting a potential underdiagnosis of COPD. Most participants (82.6%) had an FEV1/FVC ratio > 70%, indicating no spirometry-confirmed COPD diagnosis, while 147 participants (17% of them) exhibited all three cardinal COPD symptoms simultaneously. Male gender and daily cigarette consumption were significant predictors for confirmed COPD, while age showed no significance in regression analyses.
CONCLUSIONS: The ongoing HLI focuses on early detection and education to combat smoking-related risks, particularly among middle-aged males, while also highlighting the need for comprehensive strategies to address the intersection of smoking and climate change.

BACKGROUND: Although the usefulness of pulmonary function tests has been established for lung resection and coronary artery bypass surgeries, the association between preoperative pulmonary function test and postoperative respiratory complications in nonpulmonary and noncardiac surgery is inconclusive. The purpose of this study was to determine the association between preoperative forced expiratory volume in one second (FEV1) on pulmonary function test and the development of postoperative respiratory failure and/or death in patients undergoing major nonpulmonary and noncardiac surgery.
METHODS: Adult patients aged ≥ 18 years and who underwent nonpulmonary and noncardiac surgery with expected moderate to high risk of perioperative complications from June 2012 to March 2019 were included. The primary exposure was preoperative FEV1 measured by pulmonary function test within six months before surgery. The primary outcome was respiratory failure (i.e., invasive positive pressure ventilation for at least 24 h after surgery or reintubation) and/or death within 30 days after surgery. A logistic regression model was used to adjust for the respiratory failure risk index, which is a scoring system that predicts the probability of postoperative respiratory failure based on patient and surgical factors, and to examine the association between preoperative FEV1 and the development of postoperative respiratory failure and/or death.
RESULTS: Respiratory failure and/or death occurred within 30 days after surgery in 52 (0.9%) of 5562 participants. The incidence of respiratory failure and/or death in patients with FEV1 ≥ 80%, 70%- < 80%, 60%- < 70%, and < 60% was 0.9%, 0.6%, 1.7%, and 1.2%, respectively. Multivariable logistic regression analysis showed no significant association between preoperative FEV1 and postoperative respiratory failure and/or death (adjusted odds ratio per 10% decrease in FEV1: 1.01, 95% confidence interval: 0.88-1.17, P = 0.838). Addition of FEV1 information to the respiratory failure risk index did not improve the prediction of respiratory failure and/or death [area under the receiver operating characteristics curve: 0.78 (95% confidence interval: 0.72-0.84) and 0.78 (95% confidence interval: 0.72-0.84), respectively; P = 0.84].
CONCLUSIONS: We found no association between preoperative FEV1 and postoperative respiratory failure and/or death in patients undergoing major nonpulmonary and noncardiac surgery.

Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a member of the inherited neuropathy family with specific clinical and genetical manifestations. More than twenty genes have been linked to HMSN, and the number might increase. Regarding diagnosis, a healthcare provider should be suspicious if the patient is young with a family history. Integrative diagnosis, which includes electrophysiological, radiological, and genetic screening, is of great value to exclude metabolic, nutritive-toxic, infectious, and inflammatory or autoimmunological causes and to reach the exact subtype of hereditary neuropathy. Nowadays, next-generation sequencing-based analysis is becoming a routine diagnostic tool for inherited neuropathy, but if this facility is not available, electrophysiological and radiological diagnoses are the best diagnostic tools to be used. Differentiation between hereditary neuropathy and diabetic neuropathy is essential for primary care physicians to have the right plan.

In paediatrics, the pulmonary function test (PFT) is most often performed to support the diagnosis or in follow-up of asthma patients. Whatever the pathology responsible for respiratory symptoms and/or functional impairment, repeated PFTs make it possible to establish a prognosis (pulmonary function trajectories…) and to orient preventive interventions. PFT can be performed routinely from the age of three years, provided that the following requirements are met: suitable techniques and equipment, staff trained to apply the techniques and to receive young children, reference values for each technique indicating the limits of normal values and of between-test significant variation. From the age of three, children can be subjected to tidal breathing measurement of: resistance of the respiratory system (oscillometry, Rrs; airflow interruption, Rint) or of airways specific resistance (sRaw) and functional residual capacity (by applying a dilution technique). With maturity, the child will become capable of mobilizing his or her slow vital capacity to measure total lung capacity (TLC), once again by applying a dilution technique, then later by breathing against a closed shutter (plethysmography TLC and Raw). Finally, the child will be able to carry out forced expiration (forced spirometry) along with all of the other PFTs. It is important to take into account the paediatric adaptations specified in the international recommendations regarding the performance, reproducibility and quality of PFTs targeting this population.

UNASSIGNED: This study aimed to establish a comprehensive clinical prognostic risk model based on pulmonary function tests. This model was intended to guide the evaluation and predictive management of patients with resectable stage I-III non-small cell lung cancer (NSCLC) receiving neoadjuvant chemoimmunotherapy.
UNASSIGNED: Clinical pathological characteristics and prognostic survival data for 175 patients were collected. Univariate and multivariate Cox regression analyses, and least absolute shrinkage and selection operator (LASSO) regression analysis were employed to identify variables and construct corresponding models. These variables were integrated to develop a ridge regression model. The models\' discrimination and calibration were evaluated, and the optimal model was chosen following internal validation. Comparative analyses between the risk scores or groups of the optimal model and clinical factors were conducted to explore the potential clinical application value.
UNASSIGNED: Univariate regression analysis identified smoking, complete pathologic response (CPR), and major pathologic response (MPR) as protective factors. Conversely, T staging, D-dimer/white blood cell ratio (DWBCR), D-dimer/fibrinogen ratio (DFR), and D-dimer/minute ventilation volume actual ratio (DMVAR) emerged as risk factors. Evaluation of the models confirmed their capability to accurately predict patient prognosis, exhibiting ideal discrimination and calibration, with the ridge regression model being optimal. Survival analysis demonstrated that the disease-free survival (DFS) in the high-risk group (HRG) was significantly shorter than in the low-risk group (LRG) (P=2.57×10-13). The time-dependent receiver operating characteristic (ROC) curve indicated that the area under the curve (AUC) values at 1 year, 2 years, and 3 years were 0.74, 0.81, and 0.79, respectively. Clinical correlation analysis revealed that men with lung squamous cell carcinoma or comorbid chronic obstructive pulmonary disease (COPD) were predominantly in the LRG, suggesting a better prognosis and potentially identifying a beneficiary population for this treatment combination.
UNASSIGNED: The prognostic model developed in this study effectively predicts the prognosis of patients with NSCLC receiving neoadjuvant chemoimmunotherapy. It offers valuable predictive insights for clinicians, aiding in developing treatment plans and monitoring disease progression.

BACKGROUND: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1.
METHODS: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017-2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors.
RESULTS: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p < .001) and mucoid P. aeruginosa colonization (p < .001) were significantly higher in this group (p < .001). Overall mean annual ppFEV1 decline was -0.97% (95% confidence interval [CI] = -0.02 to -1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40-69) two groups (p = .004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26-2.54; p = .01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p = .038) were associated with significant ppFEV1 decline in the whole cohort.
CONCLUSIONS: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression.

Background and objective COVID-19 is a respiratory disease that is highly contagious and is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Symptoms vary from mild to severe, where most of the patients suffer from high fever, severe headaches, dry cough, and exhaustion, while the less common symptoms are diarrhea, loss of taste, sore throat, and loss of smell. Following recovery from COVID-19, some patients displayed a restricted pattern in the function of their lungs. As a result, documenting the effects of COVID-19 after infection is essential since it provides a better understanding of the long-term consequences of COVID-19. Hence, the objective of the present study was to assess pulmonary functions in post-convalescent COVID-19 patients. Methodology A cross-sectional comparative study was conducted among students and staff members of Gulf Medical University for a duration of one year from 2021 to 2022. Through a convenient sampling method, a total of 100 participants were recruited for the present study, in which pulmonary function tests (PFTs) were performed using a spirometer, and O2 levels were measured using a pulse oximeter. Additionally, respiratory rate and pulse rate were monitored. Results The present study highlighted the comparison of PFTs in post-convalescent COVID-19 patients and concluded that smoker and convalescent COVID-19 groups showed non-significant decrease (p>0.05) in forced vital capacity (FVC) prediction, forced expiratory volume in the first second (FEV1) prediction, FEV1/FVC%, forced mid-expiratory flow rate (FEF25-75%) prediction, peak expiratory flow rate (PEFR) prediction, respiratory rate, and pulse rate in comparison to the control group. In comparison to the convalescent COVID-19 group, convalescent COVID-19 smoking patients showed a significant increase in FEV1/FVC% (p=0.04). Additionally, in comparison to the convalescent COVID-19 group, a significant increase in PEFR prediction values was observed with a p-value of 0.045 and in comparison to the smoker group with a p-value of 0.006. Moreover, oxygen saturation (SpO2) levels demonstrated non-significant changes between the groups. Conclusion The study concluded that for FEV1/FVC% and PEFR prediction values among the convalescent COVID-19 smoking patient group, a significant increase was observed in comparison to the convalescent COVID-19 group. This aids healthcare professionals in amending strategies to prevent consequences resulting from post-COVID-19 infection.

BACKGROUND: Preterm infants, particularly those with bronchopulmonary dysplasia (BPD), are at risk of lung development problems. Over the last decades, lung protective strategies have been used, decreasing the risk of chronic lung disease.
OBJECTIVE: To evaluate the pulmonary function test (PFT) of preterm infants born after the introduction of lung protective strategies and to assess perinatal determinants of impaired lung function in this population.
METHODS: A prospective, observational, single-center study was conducted in the neonatal unit of a high-complexity hospital. The study included newborns with less than 32 weeks gestational age born between 2012 and 2014, who were followed up until they reach school age. For the main outcome, two groups were stablished: no BPD or grade 1 BPD (no BPD/1) and grade 2 or 3 BPD (BPD 2/3).
RESULTS: Out of 327 patients, 116 were included. BPD was diagnosed in 49.1% (47), with 50.9% (29) classified as grade 1, 35.1% (20) as grade 2, and 14.0% (8) as grade 3. Mean age at PFT was 8.59 years (SD 0.90). Mean FEV1% was 95.36% (SD 13.21) and FEV1 z-score -0.36 (SD 1.12); FVC% 97.53% (SD 12.59) and FVC z-score -0.20 (SD 1.06); FEV1/FVC ratio 85.84% (SD 8.34) and z-score -0.24 (SD 1.34). When comparing patients with no BPD/1 and BPD 2/3, we observed differences in all pulmonary function parameters, which persisted after adjusting for gestational age. No differences in PFT were observed between patients without BPD and those with grade 1 BPD. Most patients (76.7%, 89) had normal spirometry pattern, with obstructive pattern observed in 12.9% (15), restrictive pattern in 9.5% (11), and mixed pattern in 0.9% (1) of patients.
CONCLUSIONS: Preterm infants with BPD 2/3 showed a decrease in all pulmonary function parameters compared to preterm infants with no BPD/1; an effect that was independent of gestational age. Among patients with BPD who had an altered PFT pattern, the most common pattern was obstructive, followed by restrictive and then, mixed.