scholarly journals Technical Appendix: Non-Group and Uninsured Population Database

2020 ◽  
Author(s):  
Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 601
Author(s):  
Kyung-Sun Park

In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively.


2010 ◽  
Vol 10 (1) ◽  
Author(s):  
Antoni Sicras-Mainar ◽  
Milagrosa Blanca-Tamayo ◽  
Laura Gutiérrez-Nicuesa ◽  
Jordi Salvatella-Pasant ◽  
Ruth Navarro-Artieda

2006 ◽  
Vol 152 (2) ◽  
pp. 305-311 ◽  
Author(s):  
Benjamin D. Horne ◽  
Nicola J. Camp ◽  
Joseph B. Muhlestein ◽  
Lisa A. Cannon-Albright

2016 ◽  
Vol 18 (suppl_6) ◽  
pp. vi57-vi57
Author(s):  
Sarah Hummel ◽  
Wendy Kohlmann ◽  
Thomas Kollmeyer ◽  
Robert Jenkins ◽  
Joshua Sonnen ◽  
...  

Thorax ◽  
2016 ◽  
Vol 71 (Suppl 3) ◽  
pp. A40.1-A40
Author(s):  
N Williams ◽  
NA Coombs ◽  
M Johnson ◽  
L Josephs ◽  
LA Rigge ◽  
...  

2012 ◽  
Vol 6 (1) ◽  
pp. e35-e36 ◽  
Author(s):  
Soon Hee Kim ◽  
Seung Beom Hong ◽  
Kyoung Don Kwak ◽  
Eun Jung Lee ◽  
Jong Jin Kim ◽  
...  

2021 ◽  
Author(s):  
Jorge Machado Alba

Introduction: Chronic obstructive pulmonary disease (COPD) affects approximately 174 million people worldwide.The objective was to determine the trends of the use of medications for COPD in a group of Colombian patients. Methods: This was a retrospective study on prescription patterns of bronchodilators and other medications used in COPD from a population database with follow-up at 12 and 24 months. Patients older than 18 years of age of any sex who had COPD between 2017 and 2019 were included. Sociodemographic variables, medications, treatment schedules for COPD, comorbidities, comedications, and the specialty of the prescriber were considered. Results: A total of 9,476 people with a diagnosis of COPD were evaluated. They had a mean age of 75.9 ± 10.7 years, 50.1% were men, and 86.8% were prescribed by a general practitioner. At the beginning of the follow-up, on average, they received 1.6 medications/patient, mainly short-acting antimuscarinics (3784; 39.9%), followed by short-acting β-agonists (2997, 31.6%) and inhaled corticosteroids (ICS) (2239, 23.6%), but 5083 (53.6%) patients received a long-acting bronchodilator. At the beginning of the follow-up, 645 (6.8%) patients were put on triple therapy with antimuscarinics, β-agonists, and ICS, and at 12 months, this rose to 1388 (20.6%). A total of 57.9% had comorbidities, most often hypertension (44.4%). Conclusions: This group of patients with COPD treated in Colombia frequently received short-acting bronchodilators and ICS, but a growing proportion are undergoing controlled therapy with long-acting bronchodilators, a situation that can improve the indicators of morbidity, exacerbations, and hospitalization.


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