A 74-year-old man was referred to a pulmonologist for evaluation of a 1-year history of nonproductive cough and progressive exertional dyspnea. He was initially evaluated by his primary care physician, where he had spirometry that was negative for any obstructive or restrictive lung disease. An echocardiogram showed a normal left ventricular ejection fraction, with no wall motion abnormality or valvular heart disease. He had an outpatient chest radiograph performed (Fig 1), and he was subsequently treated empirically for a COPD exacerbation with 5 days of oral prednisone and azithromycin. He was eventually referred to a pulmonologist because of a lack of clinical improvement. On seeing his pulmonary physician, he described the same exertional dyspnea and a nonproductive cough. A review of systems was negative for fever, chills, wheezing, angina, arthralgia, myalgia, rash, or leg swelling. He denied any medical illness and was not taking any medications. He was currently retired and had worked as a cashier his entire adult life. He had no occupational exposure to asbestos, coal dust, beryllium, silica dust, or dust from hard metal objects, such as cobalt. However, he had smoked approximately 1 to 2 packs of cigarettes per day and had done so for the past 50 years. His vital signs were unremarkable, aside from an oxygen saturation of 94% on room air. His physical examination revealed bibasilar "velcro-like" inspiratory crackles on lung examination. There was no digital clubbing, nor was there peripheral edema in his lower extremities. He had no muscle tenderness and demonstrated normal muscle strength against resistance.

High spinal cord injured patients (SCI) are susceptible to respiratory muscle impairments. Transcranial direct current stimulation (tDCS) and peripheral electrical stimulation (PES) may influence the diaphragm's central control, but until now they are not described as a therapeutic resource for difficult weaning. We present two case reports of SCI patients (P1 and P2) with long-term tracheostomy (>40 days) and hospital stay (>50 days). In association with respiratory exercise, P1 received a combined application of anodal tDCS over the supplementary motor area plus sensory PES in the thoracic-abdominal muscles, and P2 received isolated excitatory PES in the abdominal muscles, applied daily except on weekends. Maximum inspiratory/expiratory pressure, peak cough flow, diaphragm excursion, and thickening fraction were measured in the first and last days of the protocol. Both patients had improvements, with clinical impact such as cough effectiveness, decannulated after 15 applications of stimulation. Augmentation of neural respiratory drive and corticospinal excitability is suggested.

Niemann-Pick Disease type B (NPDB) is a rare autosomal recessive disease belonging to the family of lysosomal storage disorders. NPDB is caused by mutations of sphingomyelin phosphodiesterase 1 gene (SMPD1) and is characterized by hepatosplenomegaly, interstitial lung disease, recurrent pulmonary infections, and neurologic disorders. Bronchiectasis are atypical. Until now, only three cases of lung transplantation for severe respiratory impairment have been reported. We describe a case of NPDB that was diagnosed after lung transplantation for cystic bronchiectasis. In 2016, a 31-year-old woman who was experiencing hypoxemic respiratory failure and recurrent pulmonary infections due to cystic bronchiectasis received a double-lung-transplantation. Histopathologic study on removed lungs revealed clusters of CD68 foamy lipid-laden macrophages with concentric and palisade arrangement, compatible with the diagnosis of NPDB, which was confirmed after SMPD1 genetic sequencing. Twenty-three months after transplantation, allograft function is stable (FEV1 was 100% of best-FEV1). The singularity of this case lies in the presence of bronchiectasis, which is an unprecedently described phenotype of NPDB. This finding was accompanied by the detection of a novel SMPD1 mutation (p.Ala46=) of uncertain meaning.