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The aim of this study was to assess pulmonary dysfunction in children with transfusion-dependent thalassemia (TDT) using the Global Lung Function Initiative (GLI) 2022 race-neutral spirometric reference equations and to determine the main predicting factors. The spirometric results of 68 children with TDT were compared to the results of 68 healthy control subjects using both GLI-2012 reference equations for Caucasians and GLI-2022 global equations. Associations between the spirometric data and various anthropometric, clinical, and laboratory parameters were analyzed to detect predictors of pulmonary dysfunction in this group of patients. Children with TDT showed significantly lower values of FVC and FEV 1 with a predominance of the restrictive pattern (23.53%). Thalassemic children with the restrictive pattern were significantly older, had a longer duration of regular blood transfusion, lower height, weight, and BMI z-scores, higher average serum ferritin, and higher frequency of having a serum ferritin level >2500 ng/mL. The strongest predictor for having a restrictive spirometric pattern was high serum ferritin. Our analysis shows that the transition from GLI-2012 spirometric reference equations for Caucasians to the GLI-2022 global equations has led to a reduction in the prevalence rate of restrictive pulmonary dysfunction in children with TDT, which should not affect the patient outcome in the long term. Asymptomatic children with TDT exhibited a restrictive spirometric pattern in a significant proportion. The most important predictor was high serum ferritin. We encourage the inclusion of pulmonary function testing in the routine monitoring of patients with TDT, especially in older patients and those with iron overload., (© 2023 Wiley Periodicals LLC.)

Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the diaphragm that developed over her 60-year disease course. Our case expands the clinico-genetic features of MFN2-related CMT and highlights the need to evaluate infrequent manifestations during long-term care of CMT patients.

Purpose: We aimed to evaluate the prognostic impact of pulmonary dysfunctions and their relationships with other possible prognostic factors, especially sarcopenia, in elderly patients with gastric carcinoma (GC)., Methods: In total, 402 elderly GC patients (≥ 75 years) who underwent radical gastrectomy were retrospectively reviewed. Restrictive and obstructive pulmonary dysfunction were defined as %VC < 80% and FEV1.0% < 70%, respectively., Results: Forty-two patients (10.4%) had a low %VC, which was associated with ASA-PS, comorbidity and sarcopenia while correlating with neither the FEV1.0% nor pathological variables. The overall survival in the low %VC group was significantly worse than that in the high %VC group, especially in those with pStage I/II diseases. The survival was not stratified by FEV1.0%. Non-gastric cancer-related deaths were more prevalent in the low %VC group than in the high %VC group. The cancer-specific survival showed no significant differences between the two groups. A multivariate analysis revealed a low %VC to be the most powerful predictor of a poor survival among all independent variables, including sex, age, comorbidity, total gastrectomy, and pStage. Patients with both a low %VC and sarcopenia showed an extremely poor survival., Conclusions: Preoperative restrictive pulmonary dysfunction was independently associated with poor survival outcomes, especially when present in combination with sarcopenia, due to an increased risk of death from non-cancer-related causes.

Background: Weaning from prolonged mechanical ventilation is extremely difficult in tracheostomized patients with restrictive pulmonary dysfunction. High-flow oxygen via tracheostomy supplies heated and humidified oxygen gas at > 10 L/minute. However, little has been reported on the use of high-flow oxygen via tracheostomy during weaning from ventilators in patients with restrictive pulmonary dysfunction. We report successful weaning from ventilators in patients with restrictive pulmonary dysfunction using high-flow oxygen via tracheostomy., Case Presentation: The first patient is a 78-year-old Japanese man with severe pneumococcal pneumonia who was mechanically ventilated for more than 1 month after esophagectomy for esophageal cancer. After he underwent tracheostomy because of prolonged mechanical ventilation, restrictive pulmonary dysfunction appeared: tidal volume 230-240 mL and static compliance 14-15 mL/cmH 2 O with 10 cmH 2 O pressure support ventilation. He was weaned from the ventilator under inspiratory support with high-flow oxygen via tracheostomy over a period of 16 days (flow at 40 L/minute and fraction of inspired oxygen of 0.25). The second patient is a 69-year-old Japanese man who developed aspiration pneumonia after esophagectomy and received prolonged mechanical ventilation via tracheostomy. He developed restrictive pulmonary dysfunction. High-flow oxygen via tracheostomy (flow at 40 L/minute with fraction of inspired oxygen of 0.25) was administered with measurement of the airway pressure and at the entrance of the tracheostomy tube. The measured values were as follows: 0.21-0.3 cmH 2 O, 0.21-0.56 cmH 2 O, 0.54-0.91 cmH 2 O, 0.76-2.01 cmH 2 O, 1.17-2.01 cmH 2 O, and 1.76-2.01 cmH 2 O at 10 L/minute, 20 L/minute, 30 L/minute, 40 L/minute, 50 L/minute, and 60 L/minute, respectively. The airway pressures were continuously positive and did not become negative even during inspiration, suggesting that high-flow oxygen via tracheostomy reduces inspiratory effort. He was weaned from the ventilator under inspiratory support with high-flow oxygen via tracheostomy over a period of 12 days., Conclusions: High-flow oxygen via tracheostomy may reduce the inspiratory effort and enhance tidal volume by delivering high-flow oxygen and facilitate weaning from prolonged mechanical ventilation in patients with restrictive pulmonary dysfunction.