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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.

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). In total, 402 elderly GC patients (≥ 75 years) who underwent radical gastrectomy were retrospectively reviewed. Restrictive and obstructive pulmonary dysfunction were defined as %VC

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/cmH2O with 10 cmH2O 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 cmH2O, 0.21–0.56 cmH2O, 0.54–0.91 cmH2O, 0.76–2.01 cmH2O, 1.17–2.01 cmH2O, and 1.76–2.01 cmH2O 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.

Avaliou-se a função respiratória de 40 parkinsonianos (P), entre 50 e 80 anos, nos estágio I a III da Escala de Hoehn e Yahr e de 40 não parkinsonianos (NP), com características semelhantes. A amplitude torácica de 1,8±0,8 cm nos P foi menor que 4,3±1,0 cm nos NP (p=0,00001), assim como os percentuais das capacidades vital e vital forçada de 66,8±20,3% e 69,6±22,2% nos P e de 82,3±15,7% e 82,7±16,6% nos NP (p=0,00001 e p=0,0023). Apresentaram-se equivalentes as pressões inspiratória e expiratória máximas, de 33,5±12,7 cmH2O e 36, 3±17,8 cmH2O nos P e de 37,0±12,2 cmH2O e 43,1±16,6 cmH2O nos NP (p=0,1753 e 0,0398), o volume do 1º segundo da curva expiratória forçada de 71,3±25,6% nos P e 80,6±23,6% nos NP (p=0,0899) e o percentual da capacidade vital forçada expirada em um segundo, de 104,5±19,9% nos P e 97,4±22,8% nos NP (p=0,1234). Os parkinsonianos evidenciaram restrição respiratória e diminuição de amplitude torácica, sem alteração da força muscular respiratória. We studied 40 parkinsonian patients (P), mean age 50-80 years, with Hoehn and Yahr stages I-III and 40 no parkinsonian patients (NP), with similar characteristics. The results of the thoracic amplitude was 1,8±0,8cm of P that showed a reduction to 4,3±1,0 cm of NP (p=0,00001), the vital capacity and forced vital capacity, 66,8±20,3% and 69,6±22,2% of P was decreased that 82,3±15,7% and 82,7±16,6% of NP (p=0,00001 and p=0,0023). There was not difference among the maximal inspiratory and expiratory mouth pressures, 33,5±12,7 cmH2O and 36,3±17,8 cmH2O of P and 37,0±12,2 cmH2O and 43,1±16,6 cmH2O of NP (p=0,1753 and p=0,0398), the forced expiratory volume in 1 second, 71,3±25,6% of P and 80,6±23,6% of NP (p=0,0899), and the forced expiratory volume in 1 second/ forced vital capacity, 104,5±19,9% of P and 97,4±22,8% of NP (p=0,1234). The parkinsonian patients present restrictive pulmonary dysfunction, low chest wall compliance and the respiratory muscle strenght do not decreased.

This article profiles the patient with paralytic or restrictive pulmonary dysfunction who is a candidate for physical medicine interventions. Quality-of-life factors are considered, including the use of assistive technology, ethics, costs, and standards of care. The rehabilitation process for patients with paralytic or restrictive pulmonary dysfunction includes preventing pulmonary morbidity and mortality, optimizing musculoskeletal status and physical functioning, and facilitating attainment of independence.