Rosa López-Lisbona

Chorea-Ballism Associated with Familial Amyotrophic Lateral Sclerosis. A Clinical, Genetic, and Neuropathological Study

Hyperkinetic movements in amyotrophic lateral sclerosis (ALS) are extremely rare. We present clinical, neuropathological, and genetic data for a 53‐year‐old woman with spinal onset ALS presenting chorea affecting the face, mouth, neck, and hands, and ballism in both arms 31 months after leg weakness onset. Her father and older sister had ALS, but had no movement disorders. As well as the typical neuropathological findings of ALS (marked upper and lower motor neuron loss), post‐mortem examination showed prominent neuronal loss and gliosis in the subthalamus, and in the internal globus pallidus, substantia nigra pars compacta, and red nucleus. No abnormalities were found in the caudate, putamen, and thalamus. No defects were found in the SOD1, HD, and DRPLA genes. These data support the idea that choreo‐ballism in ALS Plus may be the result of pallido‐luyso‐rubro‐nigral atrophy, despite not being the result of concomitant DRPLA based on neuropathological and genetic criteria.

Tratamiento endoscópico de la fuga aérea persistente alveolo-pleural con una válvula endobronquial unidireccional

The persistent air leaks due to alveolopleural fistula are not an uncommon complication of pneumothorax, particularly secondary ones. Unidirectional flow endobronchial valves designed for lung volume reduction are the latest incorporation to the therapeutic armamentarium. We present the case of a patient with chronic obstructive pulmonary disease (COPD) with persistent pneumothorax in spite of treatment with three pleurodesis which was able to be resolved with the placement of two IBV™ valves.

Colchicine Treatment for Tracheobronchial Amyloidosis.

Tracheobronchial amyloidosis is an infrequent disease characterized by the deposition of proteinaceous material in the tracheobronchial tree. The disease generally has a high morbidity and variable mortality in the years following diagnosis. There is no consensus on the optimal treatment. We report a case of a 63-year-old woman who presented with a diffuse tracheobronchial amyloidosis associated with laryngeal involvement, which required a percutaneous tracheostomy due to high-grade subglottic stenosis, with no evidence of systemic amyloidosis. After treatment exclusively with colchicine, she had a complete resolution of the stenotic area, with a very good response from the tracheobronchial amyloidosis disease, with only minor yellow plaques persisting. The patient has remained asymptomatic in the next 4 years of follow-up, with no evidence of endoscopic progression. This is the first documented case of this kind of response of tracheobronchial amyloidosis to colchicine treatment alone. A review of the available literature is presented.

Positive Airway Pressure to Enhance Computed Tomography Imaging for Airway Segmentation for Virtual Bronchoscopic Navigation

Rationale: Virtual bronchoscopic navigation (VBN) guidance to peripheral pulmonary lesions is often limited by insufficient segmentation of the peripheral airways. Objectives: To test the effect of applying positive airway pressure (PAP) during CT acquisition to improve segmentation, particularly at end-expiration. Methods: CT acquisitions in inspiration and expiration with 4 PAP protocols were recorded prospectively and compared to baseline inspiratory acquisitions in 20 patients. The 4 protocols explored differences between devices (flow vs. turbine), exposures (within seconds vs. 15-min) and pressure levels (10 vs. 14 cmH2O). Segmentation quality was evaluated with the number of airways and number of endpoints reached. A generalized mixed-effects model explored the estimated effect of each protocol. Measurements and Main Results: Patient characteristics and lung function did not significantly differ between protocols. Compared to baseline inspiratory acquisitions, expiratory acquisitions after 15 min of 14 cmH2O PAP segmented 1.63-fold more airways (95% CI 1.07–2.48; p = 0.018) and reached 1.34-fold more endpoints (95% CI 1.08–1.66; p = 0.004). Inspiratory acquisitions performed immediately under 10 cmH2O PAP reached 1.20-fold (95% CI 1.09–1.33; p < 0.001) more endpoints; after 15 min the increase was 1.14-fold (95% CI 1.05–1.24; p < 0.001). Conclusions: CT acquisitions with PAP segment more airways and reach more endpoints than baseline inspiratory acquisitions. The improvement is particularly evident at end-expiration after 15 min of 14 cmH2O PAP. Further studies must confirm that the improvement increases diagnostic yield when using VBN to evaluate peripheral pulmonary lesions.

Combined Bronchial Artery Embolization and Endobronchial Resection for Bronchial Carcinoid: A Safety and Feasibility Pilot Study.

Background: There is growing evidence to support bronchoscopic resection of well-circumscribed typical carcinoids. However, massive bleeding and risk of recurrence can potentially complicate this approach. Objectives: The aim of this study was to assess the safety and feasibility of endobronchial resection of carcinoids preceded by bronchial artery embolization. Methods: Five patients with centrally located typical carcinoids were recruited, 4 with a curative intent and 1 for palliation of a carcinoid with mediastinal invasion. All patients underwent selective embolization of the feeding bronchial artery 24-48 h prior to endobronchial resection, which was performed with a rigid bronchoscope and neodymium:yttrium-aluminium-perovskite laser. Results: Minimal bleeding was noted during tumour resection. After a median (range) follow-up of 20 (14-48) months, only the case with segmental extension of the tumour had local recurrence, which was treated successfully using cryotherapy (with negative endobronchial biopsies since), and no cases of metastatic spread occurred. One patient, in whom the histopathological diagnosis was changed from typical to atypical carcinoid following resection, went on to have a surgical bilobectomy 3 months later. Extensive fibrosis was noted at the site of original tumour resection with no evidence of residual disease. Conclusions: Bronchial artery embolization prior to endobronchial resection of centrally located carcinoids is feasible and safe. The reduction in bleeding may facilitate and simplify the procedure. The possible application of this combined therapy to the management of atypical carcinoids warrants the design of a larger prospective clinical trial.

Colchicin in der Behandlung der tracheobronchialen Amyloidose

Die tracheobronchiale Amyloidose ist eine selten vorkommende Erkrankung, die durch Ablagerungen von Proteinstrukturen im Tracheobronchialbaum gekennzeichnet ist. Die Krankheit ist generell mit einer hohen Morbidität und einer variablen Mortalität in den Jahren nach der Diagnosestellung assoziiert. Über die optimale Behandlung besteht kein Konsens. Wir berichten über den Fall einer 63-jährigen Patientin, die sich mit einer diffusen tracheobronchialen Amyloidose mit begleitender Kehlkopferkrankung vorstellte und bei der aufgrund einer hochgradigen subglottischen Stenose eine perkutane Tracheotomie erforderlich wurde; Anzeichen einer systemischen Amyloidose lagen nicht vor. Nach der Behandlung allein mit Colchicin normalisierte sich der stenosierte Bereich vollständig, mit sehr gutem Ansprechen der tracheobronchialen Amyloidose, von der nur noch kleine gelbe Plaques übrig blieben. In den folgenden 4 Jahren der Nachbeobachtung blieb die Patientin symptomfrei, ohne Anzeichen einer endoskopischen Progression. Dies ist der erste dokumentierte Fall eines solchen Ansprechens auf alleinige Colchicinbehandlung bei tracheobronchialer Amyloidose. Die zum Thema vorliegende Literatur wird im Überblick dargestellt.

Transarterial EBUS-TBNA in the Diagnosis of Hilar Lesions.

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