Pediatric Pulmonology最新文献

A 2-year-old girl presented to our aero-digestive clinic with complaints of dysphagia to solids. On awake endoscopy, a bluish, expansile lesion was noticed. posterior to the arytenoids, which became prominent when crying. During the airway evaluation under general anesthesia, the lesion completely disappeared, revealing a normal posterior cricoid region. Upon closer examination, a small venous malformation was noted in the posterior pharyngeal wall. A diagnosis of a "hypopharyngeal cushion" was made.

We report a pediatric case of pulmonary cryptococcosis caused by Cryptococcus neoformans in an immunocompetent child. Although the patient presented with mild clinical symptoms, pulmonary imaging revealed severe abnormalities. The diagnosis was confirmed through fungal culture of bronchoalveolar lavage fluid and detection of serum cryptococcal antigen. An appropriate and adequately administered course of antifungal treatment led to a favorable prognosis.

Introduction: Cystic fibrosis transmembrane conductance regulator modulator therapies (CFTR-MT) have altered management, reducing exacerbations and slowing pulmonary function decline. Nevertheless, it is still uncertain if the benefits of CFTR-MTs last when they are stopped. This study aimed to assess pulmonary function changes, and exacerbation rates during and after CFTR-MT use in adult cystic fibrosis patients.

Methods: Between 2018 and 2022, we conducted a study involving adult CF patients who initially used CFTR-MTs but later discontinued them due to reimbursement issues. The study was divided into three phases: predrug (T1), in-drug (T2), and postdrug (T3). We recorded pulmonary function tests, laboratory and culture results, and the number of exacerbations.

Results: The study involved 33 patients, with 28 (84.8%) receiving Elexacaftor/Tezacaftor/Ivacaftor and 5 (15.2%) receiving Ivacaftor. The median treatment and interruption durations were 3.1 (IQR = 2.9-5.7), and 2.5 (IQR = 1.5-4.0) months, respectively. The mean FEV1% was 54.3% (± 26.6), 70.4% (± 27.4), and 60.2% (± 26.5) during T1, T2, and T3, respectively (p < 0.001). The mean FVC% was 65.5% (± 23.9) in T1, increased to 81.5% (± 24.5) in T2, and decreased to 71.6% (± 25.9) in T3 (p < 0.001). The number of Psedomonas aeruginosa, and Aspergillus positive sputum cultures decreased significantly with drug use (T1: 72.7%, 39.4%; T2: 48.5%, 9.1%; T3: 45.5%, 18.2%; p = 0.014, p = 0.004, respectively). The median number of hospitalizations was 1.0 (0-5.0) in T1, 0 (0-0) in T2, and 0 (0-1.0) in T3.

Conclusion: This study revealed that CFTR-MTs are effective even in the short term for adult CF patients, but their beneficial effects quickly diminish after discontinuation. Real-life data obtained as a result of discontinuation of drugs due to reimbursement problems has highlighted the significance of regular and uninterrupted use of modulators.

Background: Notwithstanding guidance from the European Cystic Fibrosis (CF) Society (ECFS) neonatal screening (NBS) working group, significant variation persists in the evaluation and management of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) subjects, leaving many aspects of care under debate. This study reports the results of a national survey investigating management and treatment approaches of pre-school CFSPIDs in Italy.

Methods: In February 2024, a comprehensive questionnaire was distributed to all Italian CF centers. The survey explored various aspects of CFSPID management in the year 2023, including patient visit schedules, sweat tests (ST) timing, screening procedures, therapeutic interventions, and discharge criteria. Data on regional NBS protocols, number of CFSPID cases, and CF:CFSPID ratio were also collected.

Results: By December 31, 2023, CF Italian centers were following 522 CFSPIDs. In 2023, CF NBS identified 85 CF and 68 CFSPID cases, resulting in a CF:CFSPID ratio of 1.25:1. Seven centers diagnosed more CFSPID than CF, with the lowest CF:CFSPID ratio being 0.20:1. A quarter of all centers reported management plans that deviated widely from ECFS guidelines. Respiratory cultures were performed in 16 (69.6%) centers in the absence of symptoms. Nine (38.9%) prescribed antibiotics in any case of positive Pseudomonas aeruginosa cultures, including first detections and asymptomatic subjects. Spirometries were performed by 14/23 centers (60.9%) in procedure-competent children at each visit. Follow up care continued after age 6 for all CFSPIDs in 15 (65.2%) centers regardless of age, genotype or ST results. A diagnosis of CF was established based on repeated pathological STs and/or multiorgan involvement. Children with STs in intermediate range and mono-organ involvement were classified as CFTR-related disorders (CFTR-RD).

Conclusions: Despite available data on clinical course and recommendations on management of CFSPIDs, different approaches persist in clinical practice. Further efforts should be considered to disseminate and encourage adherence to international guidelines.

A 7-year-old girl with hematuria and clinical suspicion of Alport syndrome (AS) presented with dyspnea and nocturnal cough, initially diagnosed and treated as asthma. Despite inhaled corticosteroid therapy, her symptoms persisted, and spirometry indicated obstructive lung function without bronchodilator response. Chest CT revealed diffuse thickening of the esophageal wall, tracheal compression, with involvement of the gastric cardia, suggestive of diffuse leiomyomatosis. Subsequent genetic reanalysis confirmed the presence of a contiguous deletion of COL4A5 and COL4A6 genes, solidifying the diagnosis of AS. Diffuse leiomyomatosis, a rare benign neoplasm associated with AS, typically manifests as dysphagia, but in this case, it presented initially with asthma-like symptoms. This case emphasizes the importance of imaging when asthma treatment fails, particularly in patients with coexisting conditions of another system.

Objectives: To examine the extent to which asthma symptom concordance (ASC) or discordance (ASD) is associated with sleep outcomes in children with persistent asthma. Also, to investigate whether the association between ASC and sleep outcomes varies as a function of children's level of asthma control and severity.

Methods: A retrospective data analysis of Project NAPS (Nocturnal Asthma and Performance in School), an observational study which examined asthma and sleep outcomes in children with persistent asthma. Measures of ASC and ASD were developed from daily self-reported asthma symptoms and lung function measurements performed over 4 weeks. The extent to which ASC and ASD were associated with sleep efficiency, duration, and awakenings was evaluated. Concordance and discordance of asthma symptoms with sleep outcomes were examined as a function of the child's asthma severity and control.

Results: Those whose asthma symptom reports were in concordance with their lung function had longer sleep duration than children whose reports were discordant (difference = 15 min, Z = 2.61, p < 0.05), and more nighttime awakenings (difference = 0.6 awakenings, Z = 2.30, p < 0.05). Children with well-controlled asthma had longer sleep duration (difference = 18 min, p < 0.0001).

Conclusion: This study builds on the literature on asthma symptom recognition by adding an evaluation of how ASC relates to sleep outcomes. Findings suggest that concordance of asthma symptoms with lung function is associated with longer sleep duration and moderated by asthma control. ASC may be important to sleep duration, which has important implications for tailoring asthma management to optimize symptom concordance.

Two children, both under the care of specialists for mild persistent asthma, flirted with mortality. One lost and one won the battle. A 16-year-old boy never received ICS therapy despite extensive airway inflammation and remodeling and died due to mismanagement of an asthma exacerbation. A 6-year-old girl developed iatrogenic Cushing's syndrome during 18 months of continuous treatment with high, FDA-unapproved doses of both ICS and INCS and nearly died during an adrenal crisis. The role of ICS under-treatment and over-treatment and the possibility that recommendations in asthma guidelines and information in FDA package labels could have prevented both outcomes are explored.

Background: Cystic fibrosis (CF) is a multisystemic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in defective synthesis or function of the CFTR protein. Historically, CF treatment focused on managing symptoms and complications. Fortunately, modulator drugs are now available to directly target the defective CFTR protein. However, in some countries, such as Turkey, these drugs are not covered by social insurance. Consequently, many CF patients face barriers to accessing modulatory therapies or must interrupt their treatment. This study demonstrates the impact of interrupting modulator therapy on pulmonary function, emphasizing the need for uninterrupted continuous treatment.

Methods: In this study, 39 CF patients receiving elexacaftor-tezacaftor-ivacaftor (ETI) at our clinic were retrospectively analyzed. Among the patients, 18 experienced one or more interruptions, ranging from 15 to 210 days during ETI treatment. We analyzed pulmonary function test results from 27 interruption periods.

Results: At the beginning of the interruption, the mean percent predicted FEV1 (ppFEV1) was 69.59% ± 25.87%, which decreased to 64.96% ± 24.52% by the end of the interruption. There was a significant decrease with a mean change of 4.62 ± 8.49 (p = 0.008). However, no significant correlation was found between the interruption duration and FEV1 change.

Conclusion: Our results demonstrate that pulmonary functions are adversely affected by interruption periods, regardless of their duration. Even short interruptions have a significant impact on pulmonary functions. This underscores the need for uninterrupted continuation of modulatory treatment and for improved policies to ensure equitable access to treatment.

This report is a summary of the presentations given at the European Respiratory Society's Research Seminar on Asthma Prevention. The seminar reviewed both epidemiological and mechanistic studies and concluded that; (i) reducing exposure of pregnant women and children to air pollution will reduce incident asthma, (ii) there are promising data that both fish oil and a component of raw cow's milk prevent asthma, and (iii) modulating trained immunity by either mimicking helminth infection or oral and sublingual bacterial products is a promising area of research.