113 research outputs found

    Survival of patients with spinal muscular atrophy type 1

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    BACKGROUND: Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life. METHODS: A retrospective chart review was performed of SMA1 patients and their outcomes according to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), including noninvasive ventilation; and mechanically assisted cough. RESULTS: Of 194 consecutively referred patients enrolled in this study (103 males, 91 females), NT, TV, and NRA were chosen for 121 (62.3%), 42 (21.7%), and 31 (16%) patients, respectively. Survival at ages 24 and 48 months was higher in TV than NRA users: 95% (95% confidence interval: 81.8%-98.8%) and 67.7% (95% confidence interval: 46.7%-82%) at age 24 months (P < .001) and 89.43% and 45% at age 48 months in the TV and NRA groups, respectively (P < .001). The choice of TV decreased from 50% (1992-1998) to 12.7% (2005-2010) (P < .005) with a nonstatistically significant increase for NT from 50% to 65%. The choice of NRA increased from 8.1% (1999-2004) to 22.7% (2005-2010) (P < .001). CONCLUSIONS: Long-term survival outcome is determined by the choice of the treatment. NRA and TV can prolong survival, with NRA showing a lower survival probability at ages 24 and 48 months. Copyright © 2013 by the American Academy of Pediatrics

    Regional anticoagulation with heparin of an extracorporeal CO 2 removal circuit: A case report

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    Background: Extracorporeal carbon dioxide removal is an increasingly used respiratory support technique. As is true of all extracorporeal techniques, extracorporeal carbon dioxide removal needs proper anticoagulation. We report a case of a patient at risk of bleeding complications who was treated with extracorporeal carbon dioxide removal and anticoagulated with a regional technique. Case presentation: A 56-year-old Caucasian man with a history of chronic obstructive pulmonary disease exacerbation required extracorporeal carbon dioxide removal for severe hypercapnia and acidosis despite mechanical ventilation. The extracorporeal circuit was anticoagulated using a regional heparin technique to limit the patient's risk of bleeding due to a low platelet count. The patient underwent 96 h of effective extracorporeal carbon dioxide removal without any adverse events. He was successfully weaned from extracorporeal carbon dioxide removal. During the treatment, no bleeding complications or unexpected circuit clotting was observed. Conclusions: The use of regional heparin anticoagulation technique seems to be feasible and safe during extracorporeal carbon dioxide removal

    SARS-CoV-2 pneumonia and Eisenmenger’s Syndrome: doubling the challenge

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    Eisenmenger’s syndrome (ES) is the most severe phenotype of pulmonary arterial hypertension (PAH) secondary to congenital heart disease. In these cases, a significant systemic-to-pulmonary (left-to-right) shunting triggers the development of pulmonary vascular disease (PVD) and pulmonary hypertension. In cases of acute hypoxemic respiratory failure in patients with ES, high flow nasal cannula (HFNC) oxygen therapy should be considered as a first-line approach in order to avoid pulmonary complications and right ventricular overload related to positive pressure ventilation. Here, we report a case of HFNC use in a patient with COVID-19 infection and ES
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