Publications by authors named "Abdulrahman Alasiri"

Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their results is challenging. This study aims to prove the value of updating patient files with new classifications, potentially leading to better assessment and prevention.

View Article and Find Full Text PDF

Dysfunction of either the right or left ventricle can lead to heart failure (HF) and subsequent morbidity and mortality. We performed a genome-wide association study (GWAS) of 16 cardiac magnetic resonance (CMR) imaging measurements of biventricular function and structure. Mendelian randomization (MR) was used to identify plasma proteins associating with CMR traits as well as with any of the following cardiac outcomes: HF, non-ischemic cardiomyopathy, dilated cardiomyopathy (DCM), atrial fibrillation, or coronary heart disease.

View Article and Find Full Text PDF

Background: drug development and disease prevention of heart failure (HF) and atrial fibrillation (AF) are impeded by a lack of robust early-stage surrogates. We determined to what extent cardiac magnetic resonance (CMR) measurements act as surrogates for the development of HF or AF in healthy individuals.

Methods: Genetic data was sourced on the association with 22 atrial and ventricular CMR measurements.

View Article and Find Full Text PDF

Background: Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. The association of LoF variants with complex diseases and traits may lead to the discovery and validation of novel therapeutic targets. Current approaches predict high-confidence LoF variants without identifying the specific genes or the number of copies they affect.

View Article and Find Full Text PDF
Article Synopsis
  • The COVID-19 pandemic has significantly impacted health care systems globally, including Saudi Arabia, prompting a study to analyze the economic burden on the Saudi health sector.
  • The study reviewed data from 5,286 adult patients hospitalized with COVID-19 in Saudi Arabia, revealing high medical costs, with total expenditures reaching over US$ 51.5 million due to treatments and hospital stays.
  • Findings indicate that COVID-19 poses both severe health risks and substantial financial strain on the healthcare system, highlighting the need for further economic assessments and resource planning.
View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the prevalence and effects of pathogenic variants linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM) in a sample of over 200,000 individuals from the UK Biobank.
  • Findings indicate that the prevalence of these variants varies, with DCM variants showing higher cardiovascular mortality and increased diagnosis of cardiomyopathy compared to controls.
  • Despite these findings, disease penetrance among variant carriers remains low, with only 1.2-3.1% of carriers displaying significant disease expression, highlighting the need for careful management of incidental findings in genomic studies.
View Article and Find Full Text PDF

B-lineage acute lymphocytic leukemia (B-ALL) is characterized by different genetic aberrations at a chromosomal and gene level which are very crucial for diagnosis, prognosis and risk assessment of the disease. However, there is still controversial arguments in regard to disease outcomes in specific genetic abnormalities, e.g.

View Article and Find Full Text PDF

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement.

View Article and Find Full Text PDF

Background: The triple assortment influenza A(H1N1) virus emerged in spring 2009 and disseminated worldwide, including Saudi Arabia. This study was carried out to characterize Saudi influenza isolates in relation to the global strains and to evaluate the potential role of mutated residues in transmission, adaptation, and the pathogenicity of the virus.

Methods: Nasopharyngeal samples (n = 6492) collected between September 2009 to March 2011 from patients with influenza-like illness were screened by PCR for influenza A(H1N1).

View Article and Find Full Text PDF

Aims: To investigate the extent of CCR5 polymorphism in the healthy Saudi population.

Method: A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with Torrent Suite Software (v5.

View Article and Find Full Text PDF