Oral therapies for the treatment of pulmonary arterial hypertension: a population-based cost-minimization analysis

2010 ◽  
Vol 8 (1) ◽  
pp. 69-71 ◽  
Author(s):  
Marie-Claude Lefebvre ◽  
Elke Hunsche
Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1247
Author(s):  
Anna Ulrich ◽  
Pablo Otero-Núñez ◽  
John Wharton ◽  
Emilia M. Swietlik ◽  
Stefan Gräf ◽  
...  

Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy individuals from population-based cohorts. Genetic effects have been known to be context-specific and vary with changing environmental stimuli. We conducted a transcriptome- and genome-wide eQTL mapping study in a cohort of patients with idiopathic or heritable pulmonary arterial hypertension (PAH) using RNA sequencing (RNAseq) data from whole blood. We sought confirmation from three published population-based eQTL studies, including the GTEx Project, and followed up potentially novel eQTL not observed in the general population. In total, we identified 2314 eQTL of which 90% were cis-acting and 75% were confirmed by at least one of the published studies. While we observed a higher GWAS trait colocalization rate among confirmed eQTL, colocalisation rate of novel eQTL reported for lung-related phenotypes was twice as high as that of confirmed eQTL. Functional enrichment analysis of genes with novel eQTL in PAH highlighted immune-related processes, a suspected contributor to PAH. These potentially novel eQTL specific to or active in PAH could be useful in understanding genetic risk factors for other diseases that share common mechanisms with PAH.


2008 ◽  
Vol 124 (2) ◽  
pp. 183-187 ◽  
Author(s):  
Melinda Carrington ◽  
Niamh F. Murphy ◽  
Geoff Strange ◽  
Andrew Peacock ◽  
John J.V. McMurray ◽  
...  

Author(s):  
Ravikanth Papani ◽  
Alexander G. Duarte ◽  
Yu-li Lin ◽  
Yong-Fang Kuo ◽  
Gulshan Sharma

Background: Isolated cases of pulmonary arterial hypertension (PAH) with interferon α or β therapy have been reported, but no population-based estimates of the incidence of the disease after interferon exposure are available. The aim of this study was to determine the incidence of PAH after initiation of interferon therapy, using a large commercial insurance database. Methods: Using National Drug Codes (NDCs) and Healthcare Common Procedure Coding System (HCPCS) codes, we utilized the Clinformatics™ Data Mart (CDM) database to identify subjects between 20 and 65 years old who received α or β interferon therapy between April 2001 and December 2012. Patients were followed from one year prior to the first medication claim for interferon to the first diagnosis of pulmonary hypertension using ICD-9-CM codes 416.0 and 416.8, or disenrollment. In those subjects diagnosed with pulmonary hypertension, a prescription for PAH-specific medications was used as a surrogate endpoint. Results: We identified 20,113 subjects who received interferon therapy during the study period. The median follow-up was 20 months. Pulmonary hypertension occurred in 71 subjects, and PAH-specific medications were prescribed to 7 of these subjects. Conclusion: Although our analysis showed that the development of PAH is a rare event with


2019 ◽  
Vol 21 (Supplement_K) ◽  
pp. K9-K20 ◽  
Author(s):  
David G Kiely ◽  
Allan Lawrie ◽  
Marc Humbert

Abstract Pulmonary arterial hypertension (PAH) is rare and, if untreated, has a median survival of 2–3 years. Pulmonary arterial hypertension may be idiopathic (IPAH) but is frequently associated with other conditions. Despite increased awareness, therapeutic advances, and improved outcomes, the time from symptom onset to diagnosis remains unchanged. The commonest symptoms of PAH (breathlessness and fatigue) are non-specific and clinical signs are usually subtle, frequently preventing early diagnosis where therapies may be more effective. The failure to improve the time to diagnosis largely reflects an inability to identify patients at increased risk of PAH using current approaches. To date, strategies to improve the time to diagnosis have focused on screening patients with a high prevalence [systemic sclerosis (10%), patients with portal hypertension assessed for liver transplantation (2–6%), carriers of mutations of the gene encoding bone morphogenetic protein receptor type II, and first-degree relatives of patients with heritable PAH]. In systemic sclerosis, screening algorithms have demonstrated that patients can be identified earlier, however, current approaches are resource intensive. Until, recently, it has not been considered possible to screen populations for rare conditions such as IPAH (prevalence 5–15/million/year). However, there is interest in the use of artificial intelligence approaches in medicine and the application of diagnostic algorithms to large healthcare data sets, to identify patients at risk of rare conditions. In this article, we review current approaches and challenges in screening for PAH and explore novel population-based approaches to improve detection.


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