CBS 2019
CBSMD教育中心
English

科学研究

科研文章

荐读文献

Comparative efficacy of two paclitaxel-coated balloons with different excipient coatings in patients with coronary in-stent restenosis: A pooled analysis of the Intracoronary Stenting and Angiographic Results: Optimizing Treatment of Drug Eluting Stent In-Stent Restenosis 3 and 4 trials Coronary CT Angiographic and Flow Reserve-Guided Management of Patients With Stable Ischemic Heart Disease Characteristics of abnormal post-stent optical coherence tomography findings in hemodialysis patients Coronary Microcirculation Downstream Non-Infarct-Related Arteries in the Subacute Phase of Myocardial Infarction: Implications for Physiology-Guided Revascularization Cardiotoxicity and Cardiac Monitoring Among Chemotherapy-Treated Breast Cancer Patients Effect of low-density lipoprotein cholesterol on the geometry of coronary bifurcation lesions and clinical outcomes of coronary interventions in the J-REVERSE registry Update on chronic thromboembolic pulmonary hypertension Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients Immunotherapy of Endothelin-1 Receptor Type A for Pulmonary Arterial Hypertension Anatomical Attributes of Clinically Relevant Diagonal Branches in Patients with Left Anterior Descending Coronary Artery Bifurcation Lesions
|<<... 151 152 153 154 155 156 157 ...>>|

Clinical Trial2018 May 30;19(1):89.

JOURNAL：BMC Med Genet. Article Link

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

Abou Hassan OK, Haidar W, BouAkl I et al. Keywords: BMPR2; Mutation; Pulmonary hypertension

ABSTRACT

BACKGROUND - Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2-6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by the small number of clinical studies and the complete absence of genetic studies.


METHODS - Our aim was to shed light on the clinical and genetic characteristics of PAH in Lebanon and the region by using exome sequencing on PAH patients referred to the American University of Beirut Medical Center (AUBMC). Twenty-one idiopathic, hereditary and Congenital Heart Disease (CHD) PAH patients were prospectively recruited, their clinical data summarized, and sequencing performed.

RESULTS - The mean age at diagnosis was 33 years with a female preponderance of 70%. The mean pulmonary artery pressure at the time of diagnosis was 55. Genetic testing showed that 5 out of 19 idiopathic and Congenital Heart Disease PAH patients had Bone Morphogenetic Protein Receptor 2 (BMPR2) mutations at 25% prevalence, with 2 of these patients exhibiting a novel mutation. It also showed the presence of 1 BMPR2 mutation with 100% penetrance in a heritable PAH family. In the remaining cases, the lack of a complete genotype/phenotype correlation entailed a multigenic inheritance; suspected interactions involved previously associated genes T-box transcription factor 4 (TBX4), Bone Morphogenic Protein 10 (BMP10) and Growth Differentiation Factor 2 (GDF2).

CONCLUSIONS - This is the first study that looks into the genetic causes of PAH, including known and new BMPR2 mutations, in the MENA region. It is also the first study to characterize the clinical features of the disease in Lebanon.
>CBS CBS 2019

> CBS 2019

> CBS 2019 注册

> CBS 2019 会议日程

> CBS 2019 学术征集

> CBS 2019 热点

 CBSMD

> CBSMD 网站注册

> 教育中心

> 荐读文献

> Top 10 阅读文献

> 文献导读
CBS 2019 CBS 2019 主席团 教育中心 科研动态
Copyright ⓒ CBS MD Nanjing China. All rights reserved. 京ICP备16025898号-11
联系我们| Top