Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

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

Can interprofessional education change students’ attitudes? A case study from Lebanon

Abstract Background Interprofessional collaboration is key to improving the health of individuals and communities. It is supported by provision of Interprofessional education (IPE) which has recently emerged in the Middle East region. This study investigated changes in healthcare students’ attitudes towards interprofessional collaboration after undertaking the Interprofessional Education and Collaboration (IPEC) course. Methods A paper-based anonymous survey using the Interprofessional Attitude Scale (IPAS) was administered to a sample of 346 health students (nursing, medicine, and public health) pre/post undertaking the IPEC course. Less than half of the students provided a post response, with pre/post survey results of 111 pairs subsequently matched and analyzed. Results Results showed elevated pre-course scores, an improvement in students’ attitudes towards the interprofessional biases domain of the IPAS, and a slight decline in their scores in the remaining 4 domains (team roles and responsibilities, patient centeredness, community centeredness, and diversity and ethics). These changes were not statistically significant, except for the patient centeredness domain (p = 0.003**). Conclusions The study provided important results about attitudes towards interprofessional collaboration. These findings are essential because our institution is one of few in Lebanon that provides this mandatory course to a large group of health professionals. Future studies should investigate these changes in attitude scores in a larger sample size, and how these attitudes would influence collaboration post-graduation

Additional file 1: of Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

Table S1. Highly suspicious compound mutations per patient linked to PAH molecular pathways. (PDF 670 kb

Additional file 2: of Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

Figure S1. Pedigrees for families showing no BMPR2 mutations. Square, Male; Circle, female; open symbol, unaffected; filled symbol, affected; symbol with diagonal line, dead individual. (PDF 752 kb