Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.

Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion of DNA segments, are particularly impactful on genes crucial for biological functions and disease processes.

Objective: To reassess unclassified SVs that may be underlying unresolved neurodevelopmental disorders among Saudi patients.

Appropriate incorporation of susceptibility-weighted magnetic resonance imaging into routine imaging protocols for accurate diagnosis of traumatic brain injuries: a systematic review.

Traumatic brain injury (TBI) results from physical or traumatic injuries to the brain's surrounding bony structures and associated tissues, which can lead to various sequelae, including simple concussion, acute epidural hematoma, parenchymal contusions, subarachnoid hemorrhage, diffuse axonal injury, and chronic traumatic encephalopathy. Susceptibility-weighted imaging (SWI) has enhanced the accuracy of neuroimaging for these injuries. SWI is based on 3D gradient echo magnetic resonance imaging (MRI) with long echo times and flow compensation.

Evaluation of PD-1 Gene Expression Profile and Methylation of the Regulatory Regions in Patients with Ankylosing Spondylitis.

Background: Ankylosing spondylitis (AS) is a chronic autoimmune disorder characterized by the fusion of vertebral joints and axial arthritis. The programmed death-1 (PD-1) inhibitory receptor has a pivotal role in controlling T cell function and may have a significant impact on the pathogenesis of autoimmune diseases such as AS pathogenesis.

Objective: To investigate PD-1 gene expression and its epigenetic regulation by detecting methylated CpG islands in the regulatory sites of the gene.

Assessment of Health-Related Quality of Life Among Patients with Chronic Diseases and Its Relationship with Multimorbidity: A Cross-Sectional Study from Saudi Arabia.

Objective: Chronic diseases hold the potential to worsen the overall health of patients by limiting their functional status, productivity, and capacity to live well, affecting their overall health-related quality of life (HRQoL). The purpose of the study was to assess the HRQoL of individuals with chronic diseases residing in the Al-Jouf region of Saudi Arabia. Furthermore, the current study also sought to ascertain the impact of multimorbidity and the duration of illness on HRQoL.

Physicians' attitudes and confidence toward dementia care: A cross-sectional study at primary healthcare facilities in the Eastern Province, Saudi Arabia.

Background: Primary care physicians play an essential role in the health of older adults as they are frequently the first point of contact. Their positive attitude and knowledge influence the quality of care provided to patients with dementia and their caregivers. This study examined the attitudes of primary care physicians towards dementia care and their confidence in their own dementia-care skills.