Antireflux surgery may be required in patients with spinal muscular atrophy type 2 (SMA2), but disease-specific experience is limited. To our knowledge, we report the first robot-assisted Nissen fundoplication in SMA2. A 23-year-old woman with severe gastroesophageal reflux disease, bulbar dysfunction, impaired secretion management, severe restrictive respiratory impairment, a previous failed intubation, and fixed musculoskeletal deformities was referred for surgery. Multidisciplinary planning led to fibreoptic nasotracheal intubation under deep sevoflurane sedation and topical anaesthesia, preserving spontaneous ventilation. Intubation was achieved on the first attempt without desaturation or haemodynamic instability. Robot-assisted Nissen fundoplication with Mikulicz pyloroplasty was completed using adapted positioning and port placement. Robotic liver retraction and suction through a 10-Fr nasogastric tube introduced via a robotic port avoided additional access. Positioning required 30 min, operative time was 110 min, including 65 min of console time, and total procedural time from the start of positioning to skin closure was 140 min. After complete neuromuscular recovery, the patient was extubated 2 h 43 min after surgery directly onto non-invasive ventilation. No complications occurred, and she was discharged on postoperative day 5. At 1 month, contrast imaging confirmed the absence of reflux and satisfactory gastric emptying. At a 4-month multidisciplinary clinical assessment, she reported no reflux-related symptoms and improved management of salivary secretions during ongoing follow-up with our logopedists. Robot-assisted Nissen fundoplication in SMA2 is feasible in expert hands when supported by tailored anaesthetic and surgical planning.

Introduction The Asthma Control Questionnaire (ACQ) and Asthma Control Test (ACT) are widely used to assess asthma control but are more time-consuming than the Global Initiative for Asthma (GINA) level of control (LoC), a simpler tool that is commonly used in busy clinical settings. Despite the substantial impact of asthma on quality of life, quality-of-life assessment is performed less frequently than assessment of asthma control. This study aimed to evaluate the correlation between the Asthma Quality of Life Questionnaire (AQLQ) and measures of asthma control, including the ACQ and GINA LoC. The primary objective was to compare the strength of the correlations of the ACQ and GINA LoC with the AQLQ. Methods Patients with partly controlled or uncontrolled asthma, as defined by the GINA LoC, were recruited after confirmation of the diagnosis by spirometry (post-bronchodilator increase in FEV1 and/or FVC of >200 mL and >12%) or peak expiratory flow rate (PEFR) criteria (post-bronchodilator improvement in PEFR ≥20%). Baseline demographic and clinical characteristics, including symptoms, smoking status, treatment, and comorbidities, were recorded. All participants completed the AQLQ and ACQ. Correlations of the AQLQ with the ACQ, GINA LoC, and pulmonary function parameters were analyzed. Pearson's correlation coefficient was used to assess the relationships between the AQLQ, pulmonary function parameters (FEV1 and PEFR), and asthma control measures (ACQ and GINA LoC). Categorical variables, including age distribution and sex, were analyzed using the chi-square test. Results Among the 83 patients with asthma, 32 (38.6%) had partly controlled asthma, while 51 (61.4%) had uncontrolled asthma. The mean age and body mass index (BMI) were 43 ± 14.5 years and 28.3 ± 3.9 kg/m[2], respectively. The proportions of females, patients with more than two symptoms, a positive family history of asthma, allergic rhinitis, and gastroesophageal reflux disease were 47 (56.6%), 17 (20.5%), 28 (33.7%), 17 (20.5%), and nine (10.8%), respectively. The mean ACQ score, AQLQ score, pre-bronchodilator FEV1 (% predicted), and PEFR (% predicted) were 2.08, 4.4, 58.6%, and 71%, respectively. The ACQ demonstrated a strong negative correlation with the AQLQ (r = -0.60, p < 0.001), whereas the GINA LoC showed a weak negative correlation with the AQLQ (r = -0.28, p = 0.01). A weak positive correlation was observed between the ACQ and GINA LoC (r = 0.38, p < 0.001). Among pulmonary functions, FEV1 showed a weak positive correlation with the AQLQ (r = 0.22, p = 0.046) and a weak negative correlation with the GINA LoC (r = -0.24, p = 0.029). PEFR demonstrated a moderate negative correlation with the GINA LoC (r = -0.40, p < 0.001). Conclusion Although the ACQ is more time-consuming than the GINA LoC, it demonstrated a stronger correlation with asthma-specific quality of life and may be a better predictor of quality of life in adults with asthma.

Observational studies have suggested an increased risk of extraesophageal cancers in patients with gastroesophageal reflux disease (GERD), but whether these associations are causal remains uncertain. This study systematically evaluated the potential associations between genetically predicted GERD and 22 extraesophageal cancers. Genetic instruments for GERD were obtained from a large genome-wide association study including 129,080 cases and 473,524 controls. Outcome data for 22 site-specific extraesophageal cancers were obtained from multiple genome-wide association study datasets, including the UK Biobank, FinnGen, and international cancer consortia. Two-sample Mendelian randomization (MR) analyses were performed, and dataset-specific MR estimates were subsequently combined using meta-analysis. For positive findings, reverse MR and Multivariable Mendelian randomization analyses were further conducted to assess causal direction and independence from body mass index, smoking intensity, and alcohol consumption. Meta-analysis of two-sample MR showed Bonferroni-significant positive associations of genetically predicted GERD with lung cancer (odds ratio [OR] = 1.220; 95% confidence interval [CI]: 1.100-1.354; P = .0002) and pancreatic cancer (OR = 1.517; 95% CI: 1.214-1.895; P = .0002). Suggestive positive associations were also observed for laryngeal cancer (OR = 1.774; 95% CI: 1.091-2.884; P = .021) and bladder cancer (OR = 1.254; 95% CI: 1.047-1.501; P = .014), although neither survived Bonferroni correction. In Multivariable Mendelian randomization analyses accounting for body mass index, smoking intensity, and alcohol consumption, the association with lung cancer remained statistically significant (OR = 1.190; 95% CI: 1.040-1.362; P = .012), whereas the associations with pancreatic, laryngeal, and bladder cancers were no longer statistically significant. These findings provide genetic evidence supporting an association between genetically predicted GERD and lung cancer. The evidence for pancreatic, laryngeal, and bladder cancers was less robust and requires further validation in larger independent datasets. These findings may help prioritize future research on cancer risk among individuals with GERD, with further studies warranted to validate the observed associations and clarify their underlying mechanisms.

Idiopathic pulmonary fibrosis is a chronic, progressive fibrosing interstitial lung disease with a poor prognosis, carrying a median survival of two to three years without antifibrotic therapy. Nintedanib, an oral intracellular tyrosine kinase inhibitor (TKI) targeting vascular endothelial growth factor receptors (VEGFRs 1-3), platelet-derived growth factor receptor (PDGFR)-α/β, and fibroblast growth factor receptors (FGFRs) 1-3, has emerged as a cornerstone of therapy, reducing the rate of forced vital capacity (FVC) decline by approximately 50% in the INPULSIS trials. While diarrhea is the most common adverse event, generalized body swelling has not been previously described with nintedanib, although it is a well-recognized class effect of several oncologic TKIs, including imatinib and mesenchymal-epithelial transition factor (MET) inhibitors. We report a 66-year-old male ex-smoker with a 45-pack-year smoking history and comorbidities including ischemic heart disease, bronchial asthma, and gastroesophageal reflux disease who presented with five months of progressive dyspnea, classified as modified Medical Research Council grade III. High-resolution computed tomography revealed bilateral peripheral reticulation with mild honeycombing, traction bronchiectasis, and basal predominance without ground-glass opacities, fulfilling the criteria for a definite usual interstitial pneumonia pattern. Spirometry demonstrated a moderate restrictive pattern (FVC, 65%), and autoimmune screening was comprehensively negative. Following multidisciplinary review, nintedanib was initiated at 100 mg twice daily and subsequently escalated to the standard 150 mg twice-daily dose. The patient developed mild generalized body swelling at initiation, which worsened markedly after dose escalation. Extensive cardiology, nephrology, endocrine, hepatic, and metabolic evaluations identified no alternative cause. Discontinuation of nintedanib resulted in near-complete resolution of swelling within two months. Rechallenge at a tertiary interstitial lung disease center precipitated recurrence of identical generalized swelling within one month, necessitating a second discontinuation. The temporal relationship, dose dependence, and reproducible recurrence on rechallenge strongly suggest a causal association between nintedanib and generalized body swelling in this patient. This previously unreported adverse event warrants clinician vigilance and formal pharmacovigilance reporting.