Browsing by Author "Winck, JC"
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- Organization of Home Mechanical Ventilation in Portugal: Characterization of Current Centers and a Pathway to UniformizationPublication . Mineiro, A; Guimarães, MJ; Winck, JCIntroduction: Home Mechanical Ventilation (HMV) is increasing worldwide. Objective: Characterization of the Portuguese HMV Units. Methods: The HMV Team Group of the Portuguese Pulmonology Society prepared a questionnaire that was sent by e-mail addressed to Pneumology Department Directors throughout the country, and the responses were then analyzed. The results enabled a provisional classification of the Units, which followed specific criteria. Results: Thirty centers were surveyed, of which 60% (18) sent the answers to the questionnaire. As for the results obtained, only one center was considered as a basic unit. Most centers (14/18) were considered specialized units. 3/18 centers were classified as highly complex multidisciplinary units. Of the 12 centers that did not answer the questionnaire, one refused to do it and another center was in transition period. Conclusions: Analysis of the results reveals the high number of patients treated with HMV in Portugal, supports the importance of creating protocols to standardize HMV countrywide, and audit its practice through the creation of a national register.
- Prevalence of Late-Onset Pompe Disease in Portuguese Patients with Diaphragmatic Paralysis - DIPPER StudyPublication . Guimarães, MJ; Winck, JC; Conde, B; Mineiro, A; Raposo, M; Moita, J; Marinho, A; Silva, JM; Pires, N; André, S; Loureiro, CPompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes. METHODS: We collected a sample size of 18 patients (10 females, 8 males) with a median age of 60 years and diagnosis of diaphragmatic paralysis of unknown etiology, followed in the Pulmonology outpatient consultation of 9 centers in Portugal, over a 24-month study period. We evaluated data from patient's clinical and demographic characteristics as well as complementary diagnostic tests including blood tests, imaging, neurophysiologic and respiratory function evaluation. All patients were evaluated for GAA activity with DBS (dried blood test) or serum quantification and positive results confirmed by serum quantification and sequencing. RESULTS: Three patients were diagnosed with Pompe's disease and recommended for enzyme replacement therapy. The prevalence of Pompe, a rare disease, in our diaphragmatic paralysis patient sample was 16.8%. CONCLUSION: We conclude that DBS test for GAA activity should be recommended for all patients with diaphragmatic paralysis which, despite looking at all the most common causes, remains of unknown etiology; this would improve both the timing and accuracy of diagnosis for Pompe disease in this patient population. Accurate diagnosis will lead to improved care for this rare, progressively debilitating but treatable neuromuscular disease.