Publications by authors named "Yara Azar"
Article Synopsis
- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
Article Synopsis
- Familial chylomicronemia syndrome is a rare genetic disorder marked by high plasma triglyceride levels and symptoms like abdominal pain, pancreatitis, and skin lesions due to accumulated chylomicrons.
- A study on a consanguineous Syrian family in Lebanon identified a specific gene mutation (p.(Val227Phe)) linked to the syndrome in two affected children, and interestingly showed significant differences in PCSK9 levels among family members based on their genetic status.
- This case emphasizes the risks of consanguineous marriages leading to genetic disorders and the importance of early diagnosis and dietary management to avoid serious health issues associated with the syndrome.
In adults, elevated levels of circulating Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) have been associated with increased Low-density lipoprotein cholesterol (LDL-C), triglycerides (TG), and worse cardiovascular outcomes. However, few studies analyzed the relation between PCSK9 and lipid parameters in pediatric populations. The aim of our study is to evaluate the distribution and the correlation of serum PCSK9 levels with lipid parameters in a sample of Lebanese school children.
View Article and Find Full Text PDFArticle Synopsis
- Autosomal Dominant Hypercholesterolemia (ADH) is a genetic condition linked to mutations in specific genes, and the study focused on identifying new candidate genes in a French family with varying ADH risk.
- Researchers used advanced genetic techniques to find multiple mutations in known and unknown genes, discovering a set of variants connected with the ADH trait among patients.
- Despite identifying several genetic variants, the findings indicate that no single variant causes elevated LDL cholesterol; rather, a combination of these variants seems necessary to express the ADH phenotype.
Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by reduced plasma levels of low-density lipoprotein cholesterol and apolipoprotein B. To our knowledge, no study on FHBL in Lebanon and the Middle East region has been reported. Therefore, we conducted genetic studies in unrelated families and probands of Lebanese origin presenting with FHBL, in order to identify the causes of this disease.
View Article and Find Full Text PDFBackground: The Middle East region is characterized by low levels of high-density lipoprotein cholesterol (HDL-C). To date, no genetic study has investigated the cause of low HDL-C in the Lebanese population.
Objective: Our objective was to study the genetic causes for hypoalphalipoproteinemia in a Lebanese family with extremely low HDL-C levels.
Background: Atherectomy has become an increasingly utilized modality for the endovascular treatment of peripheral arterial occlusive disease. The objective of this study was to determine the incidence and risk factors for atherectomy-associated complications.
Methods: A retrospective review was performed for all atherectomy procedures performed between January 2011 and December 2015 in the Southern California Vascular Outcomes Improvement Collaborative.