Impact of Altitude on Erythrocyte Sedimentation Rate: A Cross-Sectional Study Using National Laboratory Data from Saudi Arabia.

Background: The erythrocyte sedimentation rate (ESR) is a widely used haematological test that indirectly measures inflammation in the body. It is influenced by various factors, including age, sex, and physiological condition. Altitude is another critical factor due to its impact on red blood cell physiology and plasma protein composition.

Exploring somatic mutations in , , and as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification.

Background: Colorectal cancer (CRC) is the leading cancer among Saudis, and mutations in , , and genes are therapeutically significant due to their association with pathways critical for cell cycle regulation. This study evaluates the prevalence and frequency of somatic mutations in these actionable genes in Saudi CRC patients and assesses their pathogenicity with bioinformatics methods.

Methodology: The study employed the TruSight Tumor 15 next-generation sequencing (NGS) panel on 86 colorectal cancer (CRC) samples to detect somatic mutations in , , and genes.

Lipoprotein(a): Levels and Reference Intervals Among People in Saudi Arabia.

Purpose: Blood Lp(a) concentration is recognized as an independent risk factor for cardiovascular disease (CVD). Population-based lipoprotein(a) (Lp[a]) research in Saudi Arabia is rare. Thus, the primary goal of this pilot study was to identify age- and sex-specific reference ranges for Lp(a) levels, in addition to the associations between Lp(a) levels and other atherosclerotic markers in Saudi individuals.

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Background: Inherited neuromuscular (NMD) and neurodegenerative diseases (NDD) belong to two distinct categories that disturb different components of the nervous system, leading to a variety of different symptoms and clinical manifestations. Both NMD and NDD are a heterogeneous group of genetic conditions. Genetic variations in the SGCA and SIL1 genes have been implicated in causing Limb Girdle Muscular Dystrophy (LGMD), a type of neuromuscular disorder, and Marinesco-Sjögren Syndrome (MSS) which is a neurodegenerative disorder.