Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction that can progress to myasthenic crisis, a life-threatening condition requiring mechanical ventilation. While ventilatory support is essential, it carries the risk of barotrauma, including pneumomediastinum and pneumothorax. We present the case of a 58-year-old female with a history of MG who developed acute hypercapnic respiratory failure requiring intubation and mechanical ventilation. Her clinical course was complicated by pneumomediastinum with associated subcutaneous emphysema and a secondary pneumothorax identified on CT imaging following a prolonged intensive care stay. The pathophysiology of ventilator-associated barotrauma involves alveolar overdistension and rupture, allowing air to track along bronchovascular sheaths into the mediastinum (Macklin effect), with potential extension into the pleural space and subcutaneous tissues. In this case, contributing factors likely included prolonged mechanical ventilation, underlying bronchiectasis with paraseptal bullous changes, and immunosuppression. The patient was managed conservatively with close monitoring and multidisciplinary care, resulting in clinical stability without the need for surgical intervention. This case highlights a rare but clinically significant complication of mechanical ventilation in myasthenic crisis and underscores the importance of early recognition of barotrauma. Awareness of this potential complication is essential for timely diagnosis and appropriate management in critically ill patients with MG.

Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (DNAH11) have been reported in association with PCD and are typically associated with normal ciliary ultrastructure. In addition, exon-level copy number variants (CNVs) in DNAH11, particularly duplications, remain poorly characterized and are prone to being overlooked by conventional sequencing workflows. We report a 9-year-old Chinese girl with recurrent lower respiratory tract infections, chronic pansinusitis, and bronchiectasis. Pulmonary function testing showed isolated small-airway dysfunction with preserved FEV1, with nasal nitric oxide (nNO) severely reduced (5.4 nL/min). Trio whole-exome sequencing integrated with read-depth CNV analysis detected novel compound heterozygous DNAH11 variants: a paternal inherited missense variant (c.6556A>C, p.Thr2186Pro) and a previously unreported maternally derived intragenic duplication encompassing exons 30-54. The missense variant was confirmed by Sanger sequencing, and the exon-level dosage gain was confirmed by qPCR. This case expands the spectrum of DNAH11 variants and highlights the importance of incorporating CNV detection into exome-based diagnostic process for children with a highly suggestive PCD phenotype.

Rheumatoid arthritis (RA) is a prevalent chronic systemic autoimmune inflammatory disease that primarily targets synovial joints and periarticular tissues. In RA, systemic inflammation has been associated with extra-articular manifestations, including pulmonary involvement, which are leading causes of reduced survival. Tobacco smoking is a well-established risk factor for anti-citrullinated protein antibody (ACPA)-positive RA and is also associated with chronic obstructive pulmonary disease, interstitial lung disease (ILD) and lung cancer, the prevalence of which is elevated in people with RA. Pulmonary manifestations such as airway obstructive disease, ILD and bronchiolitis affect a substantial proportion of people with RA. Screening for pulmonary disease, particularly ILD, is gaining emphasis, with high-resolution CT recommended based on risk factors including age, sex, antibody status and smoking. Despite advances in therapies to effectively manage joint inflammation, evidence-based treatments for RA-associated ILD remain limited. Chronic obstructive pulmonary disease and bronchiectasis in RA warrant more recognition owing to their effect on morbidity and mortality, and should be managed in accordance with current international treatment guidelines for these conditions. This Review summarizes the pathophysiology of lung involvement in RA, diagnostic challenges and evolving management strategies aimed at optimizing patient outcomes.

Pseudomonas aeruginosa is an opportunistic respiratory pathogen frequently affecting hospitalized patients and individuals with chronic lung diseases such as cystic fibrosis (CF), bronchiectasis, and chronic obstructive pulmonary disease (COPD). Current diagnostic methods for airway infection are often invasive or lack sensitivity, highlighting the need for non-invasive approaches. Volatile organic compounds (VOCs) released by microbes represent promising candidates for non-invasive detection of respiratory pathogens. In this study we characterized the volatilome of clinical P. aeruginosa isolates and identified candidate VOC markers associated with bacterial metabolism. An untargeted volatilomics workflow based on gas chromatography-mass spectrometry (GC-MS) was applied to profile the in vitro VOCs produced by 48 clinical P. aeruginosa isolates associated with acute and chronic respiratory infections. We identified three previously unrecognized VOCs consistently produced by all isolates, suggesting conserved metabolic features of P. aeruginosa. Comparative analysis revealed marked metabolic differences between infection phenotypes: chronic isolates produced higher levels of aliphatic volatiles, whereas acute isolates were enriched in aromatic compounds, particularly acetophenone. Longitudinally sampled clonally related isolates from CF patients exhibited distinct and evolving volatilomic signatures, indicating metabolic adaptation over the course of chronic infection. Because LasR dysfunction is common during chronic airway colonization, we further assessed its impact on VOC production. LasR-functional isolates produced elevated levels of sulfur-containing VOCs and specific ketones, while LasR-deficient isolates displayed increased alcohol production. Overall, our findings show that isolates from chronic infections are associated with a shift from aromatic to aliphatic VOCs compared to acute isolates, and highlight volatilomics as a powerful tool for probing metabolic adaptation in P. aeruginosa and for identifying candidate VOC markers associated with infection-related phenotypes.

Introduction:Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiency, sensitivity to ionizing radiation, and a tendency to malignancy. The aim of this study was to evaluate the demographic characteristics, immunodeficiency status, laboratory findings, and prognosis of children with AT based on a single-center experience.Patients and Methods:Nineteen pediatric patients diagnosed with AT between 2003 and 2024 were retrospectively analyzed at a single tertiary center.Results:The study included 11 male and 8 female patients, with a mean follow-up duration of 72.6 ± 41.3 months. The mean ages at symptom onset and diagnosis were 30.47 ± 23.7 months and 82.32 ± 26.5 months, respectively. The most common presenting symptoms were gait instability, ocular telangiectasia, and recurrent respiratory tract infections. Immunological evaluation revealed IgA deficiency in 57.9% of the patients and IgG deficiency in 15.8%. A hyper-IgM AT phenotype was identified in two patients (10.5%). During follow-up, bronchiectasis and hepatosteatosis developed in 26.3% of the patients. One patient (5.2%) developed type 2 diabetes mellitus, and malignancy occurred in three patients (15.7%). Overall, 6 patients (31.5%) died during the follow-up period.Conclusion:Ataxia-telangiectasia is a rare multisystem disorder associated with significant morbidity and mortality. Early diagnosis, comprehensive multidisciplinary follow-up, regular malignancy surveillance, and preventive strategies for recurrent sinopulmonary infections are essential for improving clinical outcomes and prognosis in affected patients.

Brain abscess is a rare but life-threatening intracranial infection most commonly resulting from hematogenous dissemination or contiguous spread. Pulmonary infections, including bronchiectasis, may represent a potential source of systemic infection. We report the case of a 50-year-old woman with type 2 diabetes mellitus admitted for acute hypoxemic respiratory failure secondary to severe bronchiectasis-associated infection complicated by acute respiratory distress syndrome (ARDS). Respiratory samples identified Streptococcus pneumoniae and Influenza A virus. Blood cultures remained negative. The patient initially improved under empirical antibiotic therapy but subsequently developed neurological deterioration on hospital day 5, characterized by seizures and nystagmus. Brain magnetic resonance imaging (MRI) revealed multiple bilateral cerebral abscesses with ring enhancement and diffusion restriction consistent with pyogenic abscesses. Transthoracic echocardiography showed no evidence of infective endocarditis, although transesophageal echocardiography was not performed. Despite escalation of antimicrobial therapy and intensive care management, the patient developed refractory septic shock and multiorgan failure, resulting in death.